ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830346132
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1434142
ClinVar RCV Id:
RCV001946257
RCV002423096
RCV003447609
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742105.1:p.Ala703Val
CA9958151
NM_172107.3:c.2108C>T