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
ENSP00000268097.5:p.Phe218Leu	CA393063478 ENST00000268097.9:c.654T>G CA393063479 ENST00000268097.9:c.654T>A CA393063489 ENST00000268097.9:c.652T>C