Canonical Allele Identifier: PA240977
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 129333
ClinVar RCV Id: RCV000117336 RCV000230360 RCV001537812 RCV002313895 RCV003315307
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742105.1:p.Tyr755Cys
CA240975
NM_172107.3:c.2264A>G