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: MMAA HGNC NCBI

HGVS (amino-acid)	Transcript change
ENSP00000281317.5:p.Tyr129Ter	ENST00000281317.9:c.386dup ENST00000281317.9:c.387C>A ENST00000281317.9:c.387C>G