Canonical Allele Identifier: PA2573090657
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1343992
ClinVar RCV Id: RCV001847537

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Met1795Ile
CA387525785
NM_014363.6:c.5385G>A
CA387525786
NM_014363.6:c.5385G>C
CA387525787
NM_014363.6:c.5385G>T