ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830346709
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219240
ClinVar RCV Id:
RCV000203593
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742106.1:p.Asp259Tyr
CA278851
NM_172108.3:c.775G>T