ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094023
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53606
ClinVar RCV Id:
RCV000505966
RCV000588283
RCV000763149
RCV001831762
RCV001004424
RCV003474560
RCV003476943
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Gln98Arg
CA326985
NM_000492.4:c.293A>G