Canonical Allele Identifier: PA2827761212
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180920
ClinVar Variation:
189966
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Asp1692Val
CA303433
NM_001353949.2:c.5075A>T