Canonical Allele Identifier: PA2826579027
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2156423
ClinVar RCV Id: RCV003075454
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Met4428Leu
CA6909930
NM_001278055.2:c.13282A>T
CA387504617
NM_001278055.2:c.13282A>C