ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830347132
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001995037
ClinVar Variation:
1469749
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742106.1:p.Arg529Pro
CA409643820
NM_172108.3:c.1586G>C