ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916062369
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
369743
ClinVar RCV Id:
RCV000678118
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742107.1:p.Tyr154Asp
CA10654833
NM_172109.3:c.460T>G