Canonical Allele Identifier: PA1139731659
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 994741

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Phe3173Leu
CA6910612
NM_014363.6:c.9519T>G
CA387514257
NM_014363.6:c.9519T>A
CA387514262
NM_014363.6:c.9517T>C