Canonical Allele Identifier: PA2827764742
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180925
ClinVar Variation:
189971
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340879.1:p.Tyr816Asp
CA303448
NM_001353950.2:c.2446T>G