Canonical Allele Identifier: PA2827783642
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189922
ClinVar RCV Id: RCV000180874 RCV002515208
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Ser1638Phe
CA303314
NM_001353957.2:c.4913C>T