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
NP_001245137.1:p.Thr254Ser	CA382898878 NM_001258208.2:c.760A>T CA382898882 NM_001258208.2:c.761C>G