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
ENSP00000444849.1:p.Lys43Asn	CA382888480 ENST00000545621.5:c.129A>C CA382888481 ENST00000545621.5:c.129A>T