Canonical Allele Identifier: PA2741945297
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 3004956
ClinVar RCV Id: RCV003861059

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Ile3498Met
CA6910440
NM_014363.6:c.10494C>G