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Canonical Allele Identifier: Get Identifier
Gene: SCN8A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000476447.3:p.[Gln1983_Lys1984insThr;Glu1985_Val1986delinsProAsnThrProAsnThr;Glu1988_Cys1991delinsGlyGlnArgIleGlnValLeu]
CA2795967148
ENST00000599343.5:c.5950_5951insCAAAACCAAACACACCCAACAC