ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139750668
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001211396
ClinVar Variation:
941582
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742107.1:p.Thr276Asn
CA409652747
NM_172109.3:c.827C>A