Canonical Allele Identifier: PA2827772718
Gene: SCN1A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Trp314Cys
CA349072514
NM_001353952.2:c.942G>T
CA349072516
NM_001353952.2:c.942G>C