ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916062323
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000483630
ClinVar Variation:
424370
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742107.1:p.Phe104Ser
CA16620979
NM_172109.3:c.311T>C