Allele Registry

Canonical Allele Identifier: PA102183

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV000003102

ClinVar Variation:

2968

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Arg958Gln	CA252498 NM_000271.5:c.2873G>A