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
ENSP00000498044.1:p.Thr76Ser	CA382889813 ENST00000648026.1:c.226A>T CA382889827 ENST00000648026.1:c.227C>G