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Canonical Allele Identifier: Get Identifier
Gene: SCN1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159435.1:p.Lys2009_Ter2010insTyrMetLysIleAsnLysAsnAsnTrpValThrAsnCysLeuGlnProValLysValMetTyrPheTyrGlnGlnAspSerPheArgArgSerMetProAsn
CA349062846
NM_001165963.4:c.6030A>T
CA349062847
NM_001165963.4:c.6030A>C