ClinGen Allele Registry
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
ENSP00000497203.1:p.Leu912Phe
CA326967
ENST00000649781.2:c.2733_2734delinsAT
CA4451328
ENST00000649781.2:c.2734C>T