Allele Registry

Canonical Allele Identifier: PA2828609033

Gene: NPC2 HGNC NCBI

ClinVar RCV:

RCV000020646

RCV003398552

ClinVar Variation:

21458

HGVS (amino-acid)	Matching Registered Transcripts
NP_001362369.1:p.Cys99Arg	CA342111 NM_001375440.1:c.295T>C