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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: GJB2
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
XP_011533351.1:p.Gln124Ter
XM_011535049.2:c.[363del;365A=;368C>A;371...
XM_011535049.2:c.[363del;368C>A;371A>T]
XM_011535049.2:c.[363del;368C>A;371A>T;37...
XM_011535049.2:c.370C>T