Canonical Allele Identifier: PA2826576741
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 212113
ClinVar RCV Id: RCV000192981 RCV000687700 RCV001081474
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Ala1226Leu
CA206168
NM_001278055.2:c.3676_3677delinsCT