Canonical Allele Identifier: PA2827758543
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 381569
ClinVar RCV Id: RCV000428224 RCV000794021
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Ser929Phe
CA16604035
NM_001353949.2:c.2786C>T