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: BEST1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
XP_005274272.1:p.Ala40Lys
XM_005274215.4:c.118_119delinsAA