ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830346881
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
21810
ClinVar RCV Id:
RCV000413623
RCV000678102
RCV000813877
RCV003315306
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742106.1:p.Arg333Gln
CA342542
NM_172108.3:c.998G>A