Canonical Allele Identifier: PA2826579014
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2154962
ClinVar RCV Id: RCV003072087

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Met4411Ile
CA387504732
NM_001278055.2:c.13233G>T
CA387504733
NM_001278055.2:c.13233G>A
CA387504734
NM_001278055.2:c.13233G>C