Allele Registry

Canonical Allele Identifier: PA109518

Gene: NPC2 HGNC NCBI

ClinVar RCV:

RCV000009004

RCV003407307

ClinVar Variation:

8483

HGVS (amino-acid)	Matching Registered Transcripts
NP_006423.1:p.Val39Met	CA340794 NM_006432.5:c.115G>A