ClinGen Allele Registry
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Canonical Allele Identifier:
PA645422246
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000471825
RCV000853366
RCV003315345
ClinVar Variation:
405208
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742105.1:p.Leu292Pro
CA16616483
NM_172107.3:c.875T>C