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
NP_001355847.1:p.Arg279Ter
NM_001368918.2:c.[834_835del;837A>T]
NM_001368918.2:c.835C>T