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_016881274.1:p.Phe420Leu
CA401777644
XM_017025785.1:c.1260C>G
CA401777646
XM_017025785.1:c.1260C>A
CA401777658
XM_017025785.1:c.1258T>C