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Canonical Allele Identifier: Get Identifier
Gene: SCN1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.[Ile1690del;Asp1692_Ser1712delinsArg;Gly1714_Ala1720del]
CA2586970328
NM_001353952.2:c.5067dup