Canonical Allele Identifier: PA1139749370
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 855374
ClinVar RCV Id: RCV001060631
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742105.1:p.Cys774Tyr
CA9958100
NM_172107.3:c.2321G>A
CA916083759
NM_172107.3:c.2321_2322delinsAT