ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305859
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53005
ClinVar RCV Id:
RCV000046014
RCV000057618
RCV000505737
RCV003591638
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Ser439Tyr
CA006206
NM_181798.1:c.1316C>A