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
ENSP00000268097.5:p.Leu500Phe	CA393058571 ENST00000268097.9:c.1500G>T CA393058574 ENST00000268097.9:c.1500G>C