ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2741814547
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2902931
ClinVar RCV Id:
RCV003618939
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Glu474Gln
CA4451003
NM_000492.4:c.1420G>C