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Canonical Allele Identifier: Get Identifier
Gene: SCN1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000303540.4:p.[Leu1315_Arg1316delinsGlnAsp;Leu1318_Leu1327delinsLysSer;Arg1329_Phe1330del;Gly1332_Ala1339delinsThrSerLysSer;Leu1341_Ala1343delinsIleSer;Pro1345del]
CA916082229
ENST00000303395.9:c.3944_3945del