ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830347451
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1701425
ClinVar RCV Id:
RCV002276102
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742106.1:p.Ile776Leu
CA409637169
NM_172108.3:c.2326A>C