ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830346724
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197891
ClinVar RCV Id:
RCV000179032
RCV000187875
RCV000192955
RCV000555510
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742106.1:p.Ala265Thr
CA278513
NM_172108.3:c.793G>A