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
ENSP00000508369.1:p.Lys349Asn	CA393061879 ENST00000684263.1:c.1047G>T CA393061880 ENST00000684263.1:c.1047G>C