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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.[Met1706del;Cys1708_Thr1714del;Gly1717_Leu1723delinsCysPheLysSerGln;Ile1725Gln;Asn1727_Asp1731delinsValGlyMetAlaCys;Ser1733_Lys1736delinsCysProSer]
CA2618841539
ENST00000599343.5:c.5118del