ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830345725
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002250065
ClinVar Variation:
1685898
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742105.1:p.Thr234Ala
CA409654076
NM_172107.3:c.700A>G