Canonical Allele Identifier: PA645437504
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 311528
ClinVar RCV Id: RCV000371368 RCV000712986 RCV001247269 RCV001642968 RCV001848099 RCV002520865
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Ala2318Thr
CA6910993
NM_014363.6:c.6952G>A