ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111645
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53064
ClinVar RCV Id:
RCV000057698
RCV000988472
RCV002345339
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Tyr184Ser
CA007421
NM_000218.3:c.551A>C