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Canonical Allele Identifier: Get Identifier
Gene: SACS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.[Tyr4166_Asp4171delinsLeuHisSerAlaTyrGly;Met4173_Val4175delinsAsnGluCys;Tyr4177Leu;Glu4180_Leu4185delinsArgIleCysTrp;Asp4187_Gly4195delinsProCys]
CA2078629678
NM_014363.6:c.12496dup