ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580121658
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
1797427
ClinVar RCV:
RCV002333170
ClinVar Variation:
1738191
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Gln1382Lys
CA4451653
NM_000492.4:c.4144C>A