Canonical Allele Identifier: PA645437620
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 411687
ClinVar RCV Id: RCV000463355 RCV000712993 RCV001782958 RCV001848816
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Leu3135Ser
CA6910624
NM_014363.6:c.9404T>C