ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139750551
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
975904
ClinVar RCV Id:
RCV001704839
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742107.1:p.Ala253Ser
CA409653870
NM_172109.3:c.757G>T