ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305615
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53102
ClinVar RCV Id:
RCV000057757
RCV000182114
RCV001390400
RCV002408549
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Arg132Leu
CA008191
NM_181798.1:c.395G>T