Canonical Allele Identifier: PA2741944996
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2841401
ClinVar RCV Id: RCV003752159

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Thr1976Ser
CA387524271
NM_014363.6:c.5927C>G
CA387524273
NM_014363.6:c.5926A>T