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Canonical Allele Identifier: Get Identifier
Gene: SCN1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000364554.3:p.[Pro1826_Pro1827delinsArg;Leu1830_Leu1836delinsArgLeuSerIleCysHisAsn;Leu1838_Asp1842delinsThrAsnSerSerSer;Met1845_Arg1850delinsTrp;His1852del;Leu1854_Asp1855delinsProTrp]
CA2586970246
ENST00000375405.7:c.5469_5476dup