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
ENSP00000389119.1:p.Val992Leu
CA368990684
ENST00000426809.5:c.2974G>C
CA368990686
ENST00000426809.5:c.2974G>T