Canonical Allele Identifier: PA645437608
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 311515
ClinVar RCV Id: RCV000315960 RCV001411302
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Arg2997Gln
CA6910682
NM_014363.6:c.8990G>A