Canonical Allele Identifier: PA2826576186
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 449520
ClinVar RCV Id: RCV000523535 RCV000674260 RCV001851489
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Pro389Leu
CA387547599
NM_001278055.2:c.1166C>T