Allele Registry

Canonical Allele Identifier: PA102252

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV000003093

RCV003114174

RCV003480016

ClinVar Variation:

2959

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Asn1156Ser	CA252497 NM_000271.5:c.3467A>G