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: PAX6
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
XP_005253013.1:p.Arg240Ter
XM_005252956.3:c.[717_718del;720A>T]
XM_005252956.3:c.718C>T