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Canonical Allele Identifier: Get Identifier
Gene: CFTR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000514471.1:p.[Glu583Lys;Glu585_Cys592delinsLysTyrLeu;Leu594_Met595del;Asn597_Leu602del;Thr604del;Lys606_Lys612delinsValAsn]
CA1139532209
ENST00000699602.1:c.1747del
CA1737392493
ENST00000699602.1:c.1746del