ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830346204
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2433026
ClinVar RCV Id:
RCV003133811
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742105.1:p.Arg775Gly
CA409637769
NM_172107.3:c.2323A>G