Allele Registry

Canonical Allele Identifier: PA109501

Gene: NPC2 HGNC NCBI

ClinVar RCV:

RCV000162102

RCV000362578

RCV000675984

RCV001080727

ClinVar Variation:

183281

HGVS (amino-acid)	Matching Registered Transcripts
NP_006423.1:p.Val30Met	CA249909 NM_006432.5:c.88G>A