This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: CFTR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000509593.1:p.Gln193_Val221delinsProValValIleAsnCysAspTrpSerTyrSerSerCysArgSerPheThrThrLeuHisLeuCysCysAsnSerAlaSerAspSerGly
CA913111896
ENST00000687278.1:c.575dup