ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA218626
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67118
ClinVar RCV Id:
RCV000057786
RCV000182309
RCV001258359
RCV001841693
RCV002513751
RCV004019001
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Arg166His
CA008532
NM_181798.1:c.497G>A