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
ENSP00000392041.3:p.Val84Leu	CA382890371 ENST00000442944.7:c.250G>C CA382890375 ENST00000442944.7:c.250G>T