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
ENSP00000497957.1:p.Leu750Phe
CA4451462
ENST00000648260.1:c.2250G>T
CA368993763
ENST00000648260.1:c.2250G>C