ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA094516
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
39516
ClinVar RCV Id:
RCV000032712
RCV000757078
RCV000781258
RCV001004494
RCV001831623
RCV002496491
RCV003466886
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Met1101Lys
CA221025
NM_000492.4:c.3302T>A