Allele Registry

Canonical Allele Identifier: PA102719

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV000003103

RCV000020229

RCV000413372

RCV000489250

RCV000590044

ClinVar Variation:

2969

21137

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Gly992Arg	CA340034 NM_000271.5:c.2974G>C CA341663 NM_000271.5:c.2974G>A