ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580117868
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1778121
ClinVar RCV Id:
RCV002406149
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Lys564Glu
CA4451065
NM_000492.4:c.1690A>G