ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093598
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7162
ClinVar RCV Id:
RCV000007582
RCV000723839
RCV001001063
RCV001004298
RCV001831541
RCV002496299
RCV003473029
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Arg1066Cys
CA325558
NM_000492.4:c.3196C>T