ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830345748
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
813771
ClinVar RCV Id:
RCV001004712
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742105.1:p.Ser247Pro
CA409653943
NM_172107.3:c.739T>C