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_005258335.1:p.Leu1230Phe
CA115898
XM_005258278.5:c.3690G>C
CA401790750
XM_005258278.5:c.3690G>T