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
ENSP00000507986.1:p.Thr217Ser	CA393063493 ENST00000683463.1:c.650C>G CA393063496 ENST00000683463.1:c.649A>T