ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830347403
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
129334
ClinVar RCV Id:
RCV000117337
RCV002444571
RCV002528214
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742106.1:p.Ala730Thr
CA231192
NM_172108.3:c.2188G>A