Canonical Allele Identifier: PA916036491
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206795
ClinVar RCV Id: RCV000188907 RCV001509553 RCV002514043 RCV003448283
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Asp998Glu
CA317343
NM_001353948.2:c.2994C>A
CA349060479
NM_001353948.2:c.2994C>G