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
ENSP00000496970.1:p.Phe230Leu
CA382897989
ENST00000650101.1:c.688T>C
CA382898007
ENST00000650101.1:c.690C>A
CA382898008
ENST00000650101.1:c.690C>G