Canonical Allele Identifier: PA2827779966
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180832
ClinVar Variation:
189879
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Ala1243Pro
CA303188
NM_001353955.2:c.3727G>C