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Canonical Allele Identifier: Get Identifier
Gene: KCNT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000419086.3:p.[Val515Ala;Thr517_Ser518delinsValPro;Arg519_Gly520insPro;Gln521_Glu522delinsGlyThr;Gln524_Gly535delinsValSerGlyAlaValAlaAlaHisValTrpAlaLeuLeu;Cys537_Ser538delinsGlnArg;Asn540_Glu541del;Tyr543_His544delinsPro]
CA2692518235
ENST00000491806.6:c.1542_1543del