ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA211537
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67029
ClinVar RCV Id:
RCV000057581
RCV000148550
RCV001104830
RCV001104620
RCV001104829
RCV001104828
RCV001841665
RCV002381370
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Arg451Gln
CA005664
NM_000218.3:c.1352G>A