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Canonical Allele Identifier: Get Identifier
Gene: SCN8A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440360.1:p.[Ile1596_Leu1600del;Ala1602_Met1605delinsValProCys;Ala1609_Ile1623del]
CA2512898859
ENST00000545061.5:c.4779del