Canonical Allele Identifier: PA2828475400
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 206987
ClinVar RCV Id: RCV000189136 RCV000302248 RCV000463410 RCV000725887 RCV000655981 RCV001329197 RCV003224211 RCV003985294
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001358176.1:p.Glu1153Lys
CA317927
NM_001371247.1:c.3457G>A