ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830346805
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000032981
RCV000498787
RCV000678147
ClinVar Variation:
39762
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742106.1:p.Gly290Asp
CA130534
NM_172108.3:c.869G>A