Canonical Allele Identifier: PA2580354561
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2143426
ClinVar RCV Id: RCV003076720
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Gln2055Arg
CA6911125
NM_014363.6:c.6164A>G