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
ENSP00000443058.1:p.Asn283Lys	CA382899773 ENST00000542729.5:c.849C>G CA382899788 ENST00000542729.5:c.849C>A