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
ENSP00000445599.1:p.Trp172_Gln191del
CA251806
ENST00000546302.6:c.515G>A
CA382894846
ENST00000546302.6:c.516G>A