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
ENSP00000514465.1:p.[Glu527Cys;Val529_Arg530delinsAsnPheLeuIleMetHisMet;Asn531_Tyr532insProSerHis;Val533_Thr535delinsProAsnTyrIle;Phe536_Ter537insGlySerIlePheAsnArgLeuValTyrIleTyr]
CA2580076326
ENST00000699596.1:c.1579_1595del