ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830344600
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000412840
ClinVar Variation:
373573
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742104.1:p.Asp259Gly
CA16043114
NM_172106.3:c.776A>G