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: HEXA HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000508110.1:p.Glu130Asp	CA393066659 ENST00000683681.1:c.390G>T CA393066661 ENST00000683681.1:c.390G>C