Canonical Allele Identifier: PA2826577167
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2841401
ClinVar RCV Id: RCV003752159
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Thr1829Ser
CA387524271
NM_001278055.2:c.5486C>G
CA387524273
NM_001278055.2:c.5485A>T