This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: NPC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005258336.1:p.Cys979Ser
CA401792301
XM_005258279.2:c.2936G>C
CA401792304
XM_005258279.2:c.2935T>A