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.Ile234Leu
CA382898835
ENST00000542729.5:c.700A>C
CA382898839
ENST00000542729.5:c.700A>T