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.Thr375Ser
CA401778231
XM_005258279.2:c.1124C>G
CA401778235
XM_005258279.2:c.1123A>T