Canonical Allele Identifier: PA658664473
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448193
ClinVar RCV Id: RCV000518000 RCV001835834 RCV002527517
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Pro45Leu
CA13805936
NM_014363.6:c.134C>T