ClinGen Allele Registry
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
ENSP00000478217.1:p.Trp7Gly
ENST00000567213.2:c.[19del;21G=;25dup]
ENST00000567213.2:c.[19del;25dup]
ENST00000567213.2:c.19T>G
