Allele Registry

Canonical Allele Identifier: PA2828608878

Gene: NPC2 HGNC NCBI

ClinVar RCV:

RCV000162102

RCV000362578

RCV000675984

RCV001080727

ClinVar Variation:

183281

HGVS (amino-acid)	Matching Registered Transcripts
NP_001362369.1:p.Val30Met	CA249909 NM_001375440.1:c.88G>A