Allele Registry

Canonical Allele Identifier: PA102395

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV000003112

RCV002509143

ClinVar Variation:

2978

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Cys113Arg	CA252503 NM_000271.5:c.337T>C