Canonical Allele Identifier: PA2830344565
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 205878
ClinVar RCV Id: RCV000187872 RCV000622359 RCV002470804 RCV002517872 RCV003992216
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742104.1:p.Ser247Leu
CA315383
NM_172106.3:c.740C>T