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
ENSP00000514467.1:p.Glu116Asp
CA368974450
ENST00000699598.1:c.348A>C
CA368974452
ENST00000699598.1:c.348A>T