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
ENSP00000514468.1:p.Phe83Leu
CA4450672
ENST00000699599.1:c.249C>G
CA368972267
ENST00000699599.1:c.247T>C
CA368972272
ENST00000699599.1:c.249C>A