Canonical Allele Identifier: PA2826577889
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2166098
ClinVar RCV Id: RCV003084704
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Asn2874Lys
CA6910671
NM_001278055.2:c.8622T>G
CA387515269
NM_001278055.2:c.8622T>A