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Canonical Allele Identifier: Get Identifier
Gene: SCN8A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000347255.4:p.[Thr1662_Gly1665delinsAsnLeuSer;Asp1667Leu;Leu1669_Leu1671delinsTrp;Ile1673_Arg1676delinsAlaAlaAlaHis;Pro1678_Asp1683del;Glu1685_His1686delinsProPro;Gly1688_Phe1691del]
CA2036193324
ENST00000355133.7:c.4984dup