Canonical Allele Identifier: PA2741945095
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2727754
ClinVar RCV Id: RCV003588199

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Ile2451Leu
CA387519485
NM_014363.6:c.7351A>T
CA387519486
NM_014363.6:c.7351A>C