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:

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000502256.1:p.Met348Ile
ENST00000675939.1:c.1044G>A

ENST00000675939.1:c.1044G>C

ENST00000675939.1:c.1044G>T