Canonical Allele Identifier: PA2573090660
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1343648
ClinVar RCV Id: RCV001844665

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Thr2396Ser
CA387519850
NM_014363.6:c.7187C>G
CA387519852
NM_014363.6:c.7186A>T