Allele Registry

Canonical Allele Identifier: PA103206

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV000003092

RCV000176149

RCV000781670

ClinVar Variation:

2958

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Thr1036Met	CA242024 NM_000271.5:c.3107C>T