ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830346539
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000678126
ClinVar Variation:
369751
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742106.1:p.Gly189Val
CA10654828
NM_172108.3:c.566G>T