Canonical Allele Identifier: PA2827775511
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2789511
ClinVar RCV Id: RCV003753492 RCV004371556
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.Trp192Arg
CA349075357
NM_001353954.2:c.574T>C
CA349075359
NM_001353954.2:c.574T>A