Allele Registry

Canonical Allele Identifier: PA102204

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV000003110

RCV000413627

RCV004017222

ClinVar Variation:

2976

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Arg978Cys	CA252501 NM_000271.5:c.2932C>T