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
ENSP00000444849.1:p.Gln50His
CA382888603
ENST00000545621.5:c.150G>C
CA382888606
ENST00000545621.5:c.150G>T