Canonical Allele Identifier: PA2828293054
Gene: PAX6 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355817.1:p.Gln422_Ter423insLeuLysLysLysLysLysLysLysGlyLysGluIleLeuCys
CA252798
NM_001368888.2:c.1268A>T