Allele Registry

Canonical Allele Identifier: PA297017

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV001171636

ClinVar Variation:

834089

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Ser1169Arg	CA297016 NM_000271.5:c.3505A>C CA401791036 NM_000271.5:c.3507C>G CA401791037 NM_000271.5:c.3507C>A