Canonical Allele Identifier: PA2826576467
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 311554
ClinVar RCV Id: RCV000349604 RCV000712971 RCV001080014 RCV001706475
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Ser747Leu
CA6911646
NM_001278055.2:c.2240C>T