Allele Registry

Canonical Allele Identifier: PA1139710710

Gene: NPC2 HGNC NCBI

ClinVar RCV:

RCV001278151

ClinVar Variation:

990180

HGVS (amino-acid)	Matching Registered Transcripts
NP_006423.1:p.Glu20Lys	CA7268212 NM_006432.5:c.58G>A