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
ENSP00000514471.1:p.Ile748Leu
CA368980586
ENST00000699602.1:c.2242A>C
CA368980590
ENST00000699602.1:c.2242A>T