ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499300067
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
999695
ClinVar RCV Id:
RCV001295719
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742105.1:p.Ala451Val
CA9958466
NM_172107.3:c.1352C>T