Canonical Allele Identifier: PA2827752567
Gene: SCN1A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Val1186Leu
CA317379
NM_001353948.2:c.3556G>T
CA349056407
NM_001353948.2:c.3556G>C