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
ENSP00000444730.1:p.Asp216Glu	CA382897517 ENST00000537841.5:c.648T>G CA382897518 ENST00000537841.5:c.648T>A