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
ENSP00000497548.1:p.Thr47Ser	CA382890574 ENST00000649868.1:c.139A>T CA382890584 ENST00000649868.1:c.140C>G