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Canonical Allele Identifier: Get Identifier
Gene: BEST1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016873719.1:p.[Leu17_Leu18delinsAla;Arg20_Tyr25delinsProAlaAlaAlaAlaHis;Asn27_Leu34delinsHisProLeuArgGlnProGlyGln;Ser36_Lys43delinsAlaHisProAlaGlnArgGlnHis;Arg44_Phe45insSerLeuGlnAlaLeu]
CA2695214325
XM_017018230.2:c.35_44dup