ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830345859
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1709043
ClinVar RCV Id:
RCV002288327
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742105.1:p.Pro308Ser
CA409652444
NM_172107.3:c.922C>T