Canonical Allele Identifier: PA317215
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206762
ClinVar RCV Id: RCV000188865 RCV001320100 RCV001134812 RCV001134813 RCV001775093
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159435.1:p.Thr398Met
CA317213
NM_001165963.4:c.1193C>T