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
ENSP00000514467.1:p.Arg516Ser
CA368984854
ENST00000699598.1:c.1548A>C
CA368984855
ENST00000699598.1:c.1548A>T