ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830347428
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1302247
ClinVar RCV Id:
RCV001754136
RCV002032748
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742106.1:p.Arg751Trp
CA9958094
NM_172108.3:c.2251C>T