ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580118079
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1784789
ClinVar RCV Id:
RCV002419818
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ser678Phe
CA4451132
NM_000492.4:c.2033C>T