Canonical Allele Identifier: PA2826576262
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448197
ClinVar RCV Id: RCV000518207 RCV001083870 RCV001113726 RCV002525071 RCV001848890
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Ala482Thr
CA6911833
NM_001278055.2:c.1444G>A