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
ENSP00000497255.1:p.Thr49Ser	CA382889378 ENST00000648374.1:c.145A>T CA382889392 ENST00000648374.1:c.146C>G