ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830346687
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001704839
ClinVar Variation:
975904
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742106.1:p.Ala253Ser
CA409653870
NM_172108.3:c.757G>T