omia.variant:134
Genomic description: g.48234217C>G
Coding DNA description: c.2864G>C
Protein description: p.(C955S)
Gene: NPC1
© 2024 The University of Sydney. Last updated:
ABN: 15 211 513 464. CRICOS number: 00026A. Phone: +61 2 9351 2222.
Authorised by: Dean, Sydney School of Veterinary Science.
Contact the University | Disclaimer | Privacy | Accessibility