ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA306021
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53083
ClinVar RCV Id:
RCV000046103
RCV000057730
RCV000182302
RCV001256914
RCV002504939
RCV001841649
RCV003335079
RCV002362677
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Ser98Leu
CA007870
NM_181798.1:c.293C>T