ClinGen Allele Registry
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Canonical Allele Identifier:
PA104450
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
22425
ClinVar RCV:
RCV000007811
RCV000187862
RCV000623725
RCV000636312
RCV000678084
RCV002255996
RCV003315293
ClinVar Variation:
7386
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742105.1:p.Arg207Trp
CA118744
NM_172107.3:c.619C>T