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
ENSP00000514468.1:p.Met348Leu
CA368978871
ENST00000699599.1:c.1042A>T
CA368978873
ENST00000699599.1:c.1042A>C