ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093762
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7110
ClinVar RCV Id:
RCV000007530
RCV001004251
RCV001831520
RCV001530124
RCV002504761
RCV003473002
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Arg347Pro
CA340630
NM_000492.4:c.1040G>C