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.Arg1253Ser
CA368975486
ENST00000426809.5:c.3759G>C
CA368975489
ENST00000426809.5:c.3759G>T