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
ENSP00000438726.1:p.Glu83Asp
CA382890361
ENST00000536813.5:c.249A>C
CA382890362
ENST00000536813.5:c.249A>T