Canonical Allele Identifier: PA2827775780
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189931
ClinVar RCV Id: RCV000180884
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.Met350Val
CA303338
NM_001353954.2:c.1048A>G