Canonical Allele Identifier: PA2827790233
Gene: SCN1A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Leu83Phe
CA349061588
NM_001353961.2:c.249G>T
CA349061589
NM_001353961.2:c.249G>C