Canonical Allele Identifier: PA2573259315
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1433600
ClinVar RCV Id: RCV001946098
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Lys2477Asn
CA6910910
NM_014363.6:c.7431G>C
CA387519172
NM_014363.6:c.7431G>T