Canonical Allele Identifier: PA2826578739
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2086091
ClinVar RCV Id: RCV003005456 RCV003170846 RCV003482435
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Pro4031Leu
CA6910137
NM_001278055.2:c.12092C>T