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
ENSP00000389119.1:p.[Gly521_Ala531del;Tyr533_Pro544delinsAsnGluGlnGlu;Gly546_Tyr547del;Asp549_Val550del]
CA326580
ENST00000426809.5:c.1560del
CA326581
ENST00000426809.5:c.1562del