Allele Registry

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Canonical Allele Identifier: Get Identifier

Gene: SACS HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_011533341.1:p.Arg1846del	CA6911236 XM_011535039.2:c.5536_5538del CA387525491 XM_011535039.2:c.5536A>T CA387525498 XM_011535039.2:c.5533A>T