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Canonical Allele Identifier: Get Identifier
Gene: CFTR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000510194.2:p.[Gln493Val;Ser495_Tyr512delinsLeu;Glu514del;Arg516_Lys522delinsAlaTrpHisHis]
CA325605
ENST00000685018.2:c.1477_1478del
CA3259181366
ENST00000685018.2:c.1476_1477del