Canonical Allele Identifier: PA916036580
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 498246
ClinVar RCV Id: RCV000593278 RCV000636263 RCV000764281
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Lys1996Asn
CA59797683
NM_001353948.2:c.5988A>C
CA349063033
NM_001353948.2:c.5988A>T