Canonical Allele Identifier: PA2830347288
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 804958
ClinVar RCV Id: RCV000992227 RCV002549787
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742106.1:p.Asp650Asn
CA409639122
NM_172108.3:c.1948G>A