ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828886571
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1326315
ClinVar RCV Id:
RCV001786537
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369164.1:p.Ala178Val
CA409654934
NM_001382235.1:c.533C>T