ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830344309
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
391566
ClinVar RCV Id:
RCV000424454
RCV001244332
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742104.1:p.Val108Met
CA9958856
NM_172106.3:c.322G>A