ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA093651
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53685
ClinVar RCV Id:
RCV000219441
RCV000507471
RCV000660792
RCV000757802
RCV001009384
RCV002221194
RCV002228159
RCV001731338
RCV003474570
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Arg1070Trp
CA327099
NM_000492.4:c.3208C>T