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.Ile44Leu
CA368974515
ENST00000699605.1:c.130A>C
CA368974517
ENST00000699605.1:c.130A>T