ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830345901
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001361912
ClinVar Variation:
1053550
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742105.1:p.Asn350Ser
CA9958649
NM_172107.3:c.1049A>G