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
ENSP00000514467.1:p.Cys1400Ter
CA327443
ENST00000699598.1:c.4197_4198del
CA327446
ENST00000699598.1:c.4200_4201del