Canonical Allele Identifier: PA2830346138
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1393693
ClinVar RCV Id: RCV001884599 RCV002272522 RCV002282636
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742105.1:p.Ala706Asp
CA317422271
NM_172107.3:c.2117C>A