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
ENSP00000456489.1:p.Asp492Glu
CA393058701
ENST00000567159.5:c.1476C>A
CA393058703
ENST00000567159.5:c.1476C>G