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
ENSP00000507179.1:p.Val290Leu	CA393062540 ENST00000683860.1:c.868G>T CA393062542 ENST00000683860.1:c.868G>C