Canonical Allele Identifier: PA2826576740
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1343990
ClinVar RCV Id: RCV001847535
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Ala1226Glu
CA387532418
NM_001278055.2:c.3677C>A