Canonical Allele Identifier: PA2826577873
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448226
ClinVar RCV Id: RCV000517800 RCV001834673 RCV003588642
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Arg2844Cys
CA6910685
NM_001278055.2:c.8530C>T