Canonical Allele Identifier: PA2827781216
Gene: SCN1A HGNC NCBI
ClinVar Allele:
516733
ClinVar RCV:
RCV000636371
ClinVar Variation:
530490
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Met1Ile