Canonical Allele Identifier: PA2830344400
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 418726
ClinVar RCV Id: RCV000478609 RCV001563652
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742104.1:p.Cys169Phe
CA16620976
NM_172106.3:c.506G>T