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
ENSP00000444730.1:p.Cys194Ser
CA382896719
ENST00000537841.5:c.580T>A
CA382896745
ENST00000537841.5:c.581G>C