Allele Registry

Canonical Allele Identifier: PA103262

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV000003098

RCV001056811

ClinVar Variation:

2964

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Tyr1088Cys	CA115897 NM_000271.5:c.3263A>G