Canonical Allele Identifier: PA645437480
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 288238
ClinVar RCV Id: RCV000390861 RCV000401468 RCV001087895 RCV001848064
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Asp2003Val
CA6911152
NM_014363.6:c.6008A>T