ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499300117
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001369733
ClinVar Variation:
1060320
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742107.1:p.Phe304Cys
CA409652485
NM_172109.3:c.911T>G