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_006722542.1:p.Ser118Arg
CA401785486
XM_006722479.3:c.354T>A
CA401785489
XM_006722479.3:c.354T>G
CA401785511
XM_006722479.3:c.352A>C