Canonical Allele Identifier: PA2827765362
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 580287
ClinVar RCV Id: RCV000703775
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340879.1:p.Asn988Lys
CA349060463
NM_001353950.2:c.2964C>G
CA349060465
NM_001353950.2:c.2964C>A