Canonical Allele Identifier: PA2827752162
Gene: SCN1A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Arg1040Ser
CA349059913
NM_001353948.2:c.3120G>T
CA349059915
NM_001353948.2:c.3120G>C