Canonical Allele Identifier: PA2827756020
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180958
ClinVar Variation:
190002
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.His127Leu
CA303521
NM_001353949.2:c.380A>T