Allele Registry

Canonical Allele Identifier: PA103369

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV000003104

RCV003125828

ClinVar Variation:

2970

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Val378Ala	CA252499 NM_000271.5:c.1133T>C