Canonical Allele Identifier: PA2826577161
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 967786
ClinVar RCV Id: RCV001242782 RCV001780180 RCV001732089 RCV002564044
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Ala1821Val
CA6911174
NM_001278055.2:c.5462C>T