ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: HEXA
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
ENSP00000455114.1:p.Gln395Ter
ENST00000566304.5:c.[1182del;1184A>T;1186...
ENST00000566304.5:c.1183C>T