Canonical Allele Identifier: PA1139731252
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 994459
ClinVar RCV Id: RCV001287917
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Glu2548Asp
CA387518567
NM_014363.6:c.7644G>C
CA387518568
NM_014363.6:c.7644G>T