ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830344819
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000187896
RCV000678162
RCV001376923
ClinVar Variation:
205899
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742104.1:p.Arg353His
CA315432
NM_172106.3:c.1058G>A