Allele Registry

Canonical Allele Identifier: PA101948

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV000020231

ClinVar Variation:

21138

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Ala1054Thr	CA341664 NM_000271.5:c.3160G>A