ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830347297
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
546903
ClinVar RCV Id:
RCV000658919
RCV001855384
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742106.1:p.Val659Met
CA9958158
NM_172108.3:c.1975G>A