ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104522
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7389
ClinVar RCV Id:
RCV000030664
RCV000678092
RCV001059860
RCV003441710
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742105.1:p.Ser247Trp
CA130021
NM_172107.3:c.740C>G