Canonical Allele Identifier: PA658659099
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 449377
ClinVar RCV Id: RCV000522963 RCV001315158
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Asp995Glu
CA1943019
NM_006920.6:c.2985T>G
CA349060373
NM_006920.6:c.2985T>A