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Canonical Allele Identifier: Get Identifier
Gene: SCN1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000491573.1:p.[Leu1584_Tyr1588delinsThrProLeuLeu;Thr1590_Gly1592delinsTyrHis;Asn1594_Asp1597delinsMetGluTyr;Val1599_Val1601del;Leu1603_Ala1611del;Leu1613_Glu1615del]
CA1304838833
ENST00000640036.1:c.4750_4751del