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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000268097.6:p.Glu130Asp
CA393066659
ENST00000268097.10:c.390G>T
CA393066661
ENST00000268097.10:c.390G>C