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
ENSP00000498786.1:p.Trp283Cys	CA382898741 ENST00000652429.1:c.849G>T CA382898743 ENST00000652429.1:c.849G>C