Canonical Allele Identifier: PA2828474229
Gene: SCN2A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001358176.1:p.Val423Leu
CA204478
NM_001371247.1:c.1267G>C
CA349022248
NM_001371247.1:c.1267G>T