ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830345422
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
502110
ClinVar RCV Id:
RCV000591472
RCV001069245
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742104.1:p.Ile816Val
CA409636810
NM_172106.3:c.2446A>G