Allele Registry

Canonical Allele Identifier: PA103394

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV000003096

ClinVar Variation:

2962

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Val889Met	CA115896 NM_000271.5:c.2665G>A