Canonical Allele Identifier: PA2827752115
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 429403
ClinVar RCV Id: RCV000493354 RCV001132320 RCV001132321 RCV001227551
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Val1016Met
CA59787454
NM_001353948.2:c.3046G>A