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: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000509288.1:p.Gly56Arg
ENST00000686218.1:c.166G>A

ENST00000686218.1:c.166G>C