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
ENSP00000514473.1:p.Phe1250Leu
CA4451656
ENST00000699605.1:c.3748T>C
CA368983508
ENST00000699605.1:c.3750T>A
CA368983511
ENST00000699605.1:c.3750T>G