ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305527
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53059
ClinVar RCV Id:
RCV000057690
RCV000223741
RCV000984322
RCV001386000
RCV002496703
RCV002336182
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Arg47His
CA007329
NM_181798.1:c.140G>A