Canonical Allele Identifier: PA2828294388
Gene: PAX6 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355821.1:p.Gln436_Ter437insLysLysLysLysLysLysLysLysGlyLysGluIleLeuCys
CA5933631
NM_001368892.2:c.1309T>A