Canonical Allele Identifier: PA2826940691
Gene: PAX6 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001297089.1:p.Gln286_Ter287insGlnLysLysLysLysLysLysLysGlyLysGluIleLeuCys
CA379966783
NM_001310160.2:c.859T>C