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
ENSP00000498786.1:p.Val224Leu
CA382897191
ENST00000652429.1:c.670G>C
CA382897196
ENST00000652429.1:c.670G>T