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
ENSP00000444817.1:p.Asn71Lys	CA382888436 ENST00000542822.5:c.213C>A CA382888437 ENST00000542822.5:c.213C>G