Canonical Allele Identifier: PA645437488
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 311532
ClinVar RCV Id: RCV000321278 RCV002522276
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Asp2193Asn
CA6911059
NM_014363.6:c.6577G>A