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Canonical Allele Identifier: Get Identifier
Gene: CFTR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000483.3:p.[Thr1246_Ser1248delinsLeuAspGln;Lys1250_Leu1258del;Leu1260Val;Asn1262_Ile1267delinsCysTyr;Ile1269_Val1272delinsLeuPhe;Trp1274_Ser1276del]
CA2573141566
NM_000492.4:c.3736del