Allele Registry

Canonical Allele Identifier: PA102424

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV000003108

RCV000623140

RCV000730873

ClinVar Variation:

2974

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Cys177Tyr	CA340035 NM_000271.5:c.530G>A