ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830344770
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000558218
RCV000622400
ClinVar Variation:
461424
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742104.1:p.Arg332Gly
CA409652112
NM_172106.3:c.994A>G