Canonical Allele Identifier: PA2828300796
Gene: PAX6 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355847.1:p.Gln461_Ter462insLysLysLysLysLysLysLysLysGlyLysGluIleLeuCys
CA5933631
NM_001368918.2:c.1384T>A