ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA130535
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000032981
RCV000498787
RCV000678147
ClinVar Variation:
39762
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004509.2:p.Gly290Asp
CA130534
NM_004518.5:c.869G>A