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
ENSP00000507179.1:p.Met339Leu	CA393061953 ENST00000683860.1:c.1015A>T CA393061955 ENST00000683860.1:c.1015A>C