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
ENSP00000438424.1:p.Val223Leu
CA382898298
ENST00000544387.5:c.667G>C
CA382898301
ENST00000544387.5:c.667G>T