Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000445429.1:p.Asp18Glu	CA382888369 ENST00000543090.5:c.54C>A CA382888370 ENST00000543090.5:c.54C>G