Canonical Allele Identifier: PA2580354486
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2147242
ClinVar RCV Id: RCV003060795
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Ile1774Phe
CA387525927
NM_014363.6:c.5320A>T