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
ENSP00000457037.1:p.Phe44Leu	CA393070458 ENST00000566672.5:c.132T>G CA393070460 ENST00000566672.5:c.132T>A CA393070469 ENST00000566672.5:c.130T>C