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.Leu507Phe	CA393058443 ENST00000268097.9:c.1521G>T CA393058445 ENST00000268097.9:c.1521G>C