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
ENSP00000507179.1:p.Asp347Glu
CA393061893
ENST00000683860.1:c.1041C>G
CA393061894
ENST00000683860.1:c.1041C>A