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
ENSP00000514456.1:p.Gln996_Val1024delinsProValValIleAsnCysAspTrpSerTyrSerSerCysArgSerPheThrThrLeuHisLeuCysCysAsnSerAlaSerAspSerGly
CA913111896
ENST00000699585.1:c.2984dup