Allele Registry

Canonical Allele Identifier: PA2828608926

Gene: NPC2 HGNC NCBI

ClinVar Allele:

23521

ClinVar RCV:

RCV000009003

ClinVar Variation:

8482

HGVS (amino-acid)	Matching Registered Transcripts
NP_001362369.1:p.Ser67Pro	CA340793 NM_001375440.1:c.199T>C