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.Gln48His	CA382888603 ENST00000648026.1:c.144G>C CA382888606 ENST00000648026.1:c.144G>T