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.Ile16Leu	CA382888274 ENST00000648374.1:c.46A>T CA382888278 ENST00000648374.1:c.46A>C