ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828886904
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2430050
ClinVar RCV Id:
RCV003128015
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369164.1:p.Gly517Ser
CA409645236
NM_001382235.1:c.1549G>A