ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829530001
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
360499
ClinVar RCV:
RCV000412970
ClinVar Variation:
373698
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004509.2:p.Arg214Pro
CA16043158
NM_004518.5:c.641G>C