ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645422404
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
431951
ClinVar RCV Id:
RCV000498715
RCV001366644
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742105.1:p.His328Asn
CA409652163
NM_172107.3:c.982C>A