Canonical Allele Identifier: PA645437505
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 285241
ClinVar RCV Id: RCV000338875 RCV000725615 RCV001079763 RCV001109417 RCV002519175
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Asn2380Lys
CA6910967
NM_014363.6:c.7140T>A
CA387519950
NM_014363.6:c.7140T>G