Allele Registry

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Canonical Allele Identifier: Get Identifier

Gene: SACS HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_016876028.1:p.Val3438Leu	CA387512471 XM_017020539.1:c.10312G>T CA387512472 XM_017020539.1:c.10312G>C