Canonical Allele Identifier: PA2826577516
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2727754
ClinVar RCV Id: RCV003588199

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Ile2304Leu
CA387519485
NM_001278055.2:c.6910A>T
CA387519486
NM_001278055.2:c.6910A>C