Canonical Allele Identifier: PA2826578368
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 212109
ClinVar RCV Id: RCV000193480 RCV000230933 RCV000278445 RCV001079338 RCV001847870
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Ala3514Val
CA207002
NM_001278055.2:c.10541C>T