ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830345261
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
658483
ClinVar RCV Id:
RCV000815315
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742104.1:p.Ser684Leu
CA9958152
NM_172106.3:c.2051C>T