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
ENSP00000444817.1:p.Glu73Asp
CA382888477
ENST00000542822.5:c.219A>C
CA382888479
ENST00000542822.5:c.219A>T