Allele Registry

Canonical Allele Identifier: PA2828102983

Gene: NPC2 HGNC NCBI

ClinVar RCV:

RCV000729307

RCV002535113

ClinVar Variation:

594094

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350617.1:p.Glu118Lys	CA7268145 NM_001363688.1:c.352G>A