Canonical Allele Identifier: PA2826014121
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206875
ClinVar RCV Id: RCV000488340 RCV000692247 RCV001136462 RCV001136463 RCV002345677 RCV003128398
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159436.1:p.Gly1852Glu
CA317645
NM_001165964.3:c.5555G>A