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
ENSP00000438424.1:p.Asp249Glu	CA382898816 ENST00000544387.5:c.747T>G CA382898818 ENST00000544387.5:c.747T>A