ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830344527
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
803622
ClinVar RCV Id:
RCV000990334
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742104.1:p.Val233dup
CA915952278
NM_172106.3:c.696_698dup