ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830345643
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1744320
ClinVar RCV Id:
RCV003096540
RCV002342721
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742105.1:p.Arg165Gln
CA9958808
NM_172107.3:c.494G>A