ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830347397
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
930306
ClinVar RCV Id:
RCV001195865
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742106.1:p.Gly727_Ser731del
CA1139666804
NM_172108.3:c.2179_2193del