Allele Registry

Canonical Allele Identifier: PA2828102985

Gene: NPC2 HGNC NCBI

ClinVar RCV:

RCV003338128

ClinVar Variation:

2585512

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350617.1:p.Pro120Thr	CA390532242 NM_001363688.1:c.358C>A