ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499300066
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1009330
ClinVar RCV Id:
RCV001306799
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742105.1:p.Ser445Pro
CA409646800
NM_172107.3:c.1333T>C