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Canonical Allele Identifier: Get Identifier
Gene: PAX6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355857.1:p.[His34_Ser35delinsGlnGlnArg;Gly36_Ala37insPro;Ala37_Arg38insVal;Pro39_Ile42delinsHisPheProAsn;Arg44_Leu46delinsAlaGlyVal;Val48_Gly51delinsArgMet;Ser54_Leu63delinsIleAsnLysGlnSerSerSerGlnProGly]
CA2695213551
NM_001368928.2:c.101dup