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_006718309.1:p.Arg173Ter
XM_006718246.2:c.[516_517del;519A>T]
XM_006718246.2:c.517C>T