Canonical Allele Identifier: PA2499278476
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1132189
ClinVar RCV Id: RCV001466352

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Phe577Leu
CA6911858
NM_014363.6:c.1731C>G
CA6911859
NM_014363.6:c.1729T>C
CA387546937
NM_014363.6:c.1731C>A