Allele Registry

Canonical Allele Identifier: PA2828608867

Gene: NPC2 HGNC NCBI

ClinVar RCV:

RCV001278151

ClinVar Variation:

990180

HGVS (amino-acid)	Matching Registered Transcripts
NP_001362369.1:p.Glu20Lys	CA7268212 NM_001375440.1:c.58G>A