ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA342480
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000678064
RCV003315298
ClinVar Variation:
21771
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742105.1:p.Leu637Arg
CA342478
NM_172107.3:c.1910T>G