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Canonical Allele Identifier: Get Identifier
Gene: PAX6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011518450.1:p.[His102_Arg106delinsGlnGlnArgGly;Cys108_Ser111delinsAlaVal;Ile113_His117delinsHisPheProAsnSer;Ala120_Asn127delinsProCysArgCysLysSerProSerAlaGly;Asn129delinsSerLysArg;Ser131Gln]
CA2695213551
XM_011520148.1:c.305dup