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.Phe582Leu
CA401773766
XM_006722479.3:c.1746C>A
CA401773772
XM_006722479.3:c.1746C>G
CA401773789
XM_006722479.3:c.1744T>C