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) Matching Registered Transcripts
ENSP00000443058.1:p.Asp254Glu
CA382899147
ENST00000542729.5:c.762T>A
CA382899149
ENST00000542729.5:c.762T>G