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
ENSP00000498044.1:p.Trp200Cys
CA382897561
ENST00000648026.1:c.600G>C
CA382897564
ENST00000648026.1:c.600G>T