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
ENSP00000497965.1:p.Arg117His
CA221026
ENST00000649406.1:c.350G>A
CA353800
ENST00000649406.1:c.[350G>A;1209+6527del]
CA891862588
ENST00000649406.1:c.[350G>A;1209+6526_1209+6527del]