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Canonical Allele Identifier: Get Identifier
Gene: CFTR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000510194.1:p.[Lys200delinsIleTrpSerAspThrThr;Ala201_Phe202insLeu;Gly203_Gln207delinsCysSerCysPheSerGly;Phe209_Pro212delinsThrSerLysLeu;Ser214_Val215delinsIleAlaArgLeuArgAsn;Ala216_Ter217insLeuArg]
CA577224058
ENST00000685018.1:c.599_603del