ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA327536
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
68643
ClinVar RCV:
RCV000576939
RCV001826690
RCV004525865
ClinVar Variation:
53976
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Leu165Ser
CA327535
NM_000492.4:c.494T>C