Canonical Allele Identifier: PA2827756980
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189888
ClinVar RCV Id: RCV000180840
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Met379Lys
CA303214
NM_001353949.2:c.1136T>A