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
ENSP00000507004.1:p.Thr286Ser	CA393062581 ENST00000683884.1:c.857C>G CA393062583 ENST00000683884.1:c.856A>T