Canonical Allele Identifier: PA2827787111
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 893876
ClinVar RCV Id: RCV001133024 RCV001133023
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Asn1939Lys
CA349063275
NM_001353958.2:c.5817C>G
CA349063276
NM_001353958.2:c.5817C>A