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
NP_001019553.1:p.Asp272Glu	CA382898816 NM_001024382.2:c.816T>G CA382898818 NM_001024382.2:c.816T>A