Canonical Allele Identifier: PA2827787980
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 374331
ClinVar RCV Id: RCV000415450 RCV001584109 RCV001861452 RCV002402109
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Ser569Asn
CA16043652
NM_001353960.2:c.1706G>A