ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830347683
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1333324
ClinVar RCV Id:
RCV001808012
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742107.1:p.Arg373Met
CA409651038
NM_172109.3:c.1118G>T