Canonical Allele Identifier: PA2827790360
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206792
ClinVar RCV Id: RCV001042079 RCV001356386 RCV002314752
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Met162Leu
CA317331
NM_001353961.2:c.484A>C
CA349060802
NM_001353961.2:c.484A>T