ClinGen Allele Registry
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Canonical Allele Identifier:
PA288926
Gene: KCNQ2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742105.1:p.Glu515Asp
CA288924
NM_172107.3:c.1545G>C
CA9958409
NM_172107.3:c.1545G>T