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.Gln1250His
CA368975404
ENST00000426809.5:c.3750A>C
CA368975408
ENST00000426809.5:c.3750A>T