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Canonical Allele Identifier: Get Identifier
Gene: PAX6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000492397.1:p.[His34_Arg38delinsGlnGlnArgGly;Cys40_Ser43delinsAlaVal;Ile45_His49delinsHisPheProAsnSer;Ala52_Asn59delinsProCysArgCysLysSerProSerAlaGly;Asn61delinsSerLysArg;Ser63Gln]
CA2695213551
ENST00000640963.1:c.101dup