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Canonical Allele Identifier: Get Identifier
Gene: SCN1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.[Phe1192_Ile1200del;Leu1202_Ser1203delinsArgPro;Gly1205_Ala1206del;Ala1208del;Glu1210_Thr1222delinsSer]
CA658683273
NM_001353957.2:c.3576del