ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: CFTR
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
ENSP00000514471.1:p.[Gly551_Ala561del;Tyr563_Pro574delinsAsnGluGlnGlu;Gly576_Tyr577del;Asp579_Val580del]
CA326580
ENST00000699602.1:c.1650del
CA326581
ENST00000699602.1:c.1652del