Allele Registry

Canonical Allele Identifier: PA102522

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV000003091

ClinVar Variation:

2957

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Gln928Pro	CA252496 NM_000271.5:c.2783A>C