Canonical Allele Identifier: PA2830344796
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 369777
ClinVar RCV Id: RCV000678157 RCV002523838
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742104.1:p.Trp344Arg
CA10654802
NM_172106.3:c.1030T>C
CA409651290
NM_172106.3:c.1030T>A