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Canonical Allele Identifier: Get Identifier
Gene: SCN1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000364554.3:p.[Val1012_Tyr1020del;Phe1022_Ile1033del;Asp1035_Asp1041delinsMet]
CA2580064337
ENST00000375405.7:c.3035del