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Canonical Allele Identifier: Get Identifier
Gene: SACS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000385844.1:p.[Tyr3416_Asp3421delinsLeuHisSerAlaTyrGly;Met3423_Val3425delinsAsnGluCys;Tyr3427Leu;Glu3430_Leu3435delinsArgIleCysTrp;Asp3437_Gly3445delinsProCys]
CA2078629678
ENST00000402364.1:c.10246dup