ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093612
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000007578
RCV000506781
RCV000592350
RCV001004299
RCV001831538
RCV002496297
RCV003473028
ClinVar Variation:
7158
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Arg1066His
CA325555
NM_000492.4:c.3197G>A