Canonical Allele Identifier: PA645437293
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 311543
ClinVar RCV Id: RCV000300780 RCV000516210 RCV001242340 RCV002520868
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Leu1646Met
CA6911320
NM_014363.6:c.4936C>A