Canonical Allele Identifier: PA2827786069
Gene: SCN1A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Trp1330Arg
CA349050613
NM_001353958.2:c.3988T>C
CA349050614
NM_001353958.2:c.3988T>A