Canonical Allele Identifier: PA916014067
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 805300
ClinVar RCV Id: RCV000992794

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Leu2145Phe
CA387521851
NM_014363.6:c.6435G>T
CA387521852
NM_014363.6:c.6435G>C