Canonical Allele Identifier: PA2827754473
Gene: SCN1A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Met1664Leu
CA349069845
NM_001353948.2:c.4990A>T
CA349069850
NM_001353948.2:c.4990A>C