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
NP_000511.2:p.Arg340Ser	CA393061940 NM_000520.6:c.1020G>T CA393061941 NM_000520.6:c.1020G>C