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Canonical Allele Identifier: Get Identifier
Gene: SCN1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000492917.1:p.[Val1011_Tyr1019del;Phe1021_Ile1032del;Asp1034_Asp1040delinsMet]
CA2580064337
ENST00000641575.1:c.3032del