Canonical Allele Identifier: PA658831562
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 557488
ClinVar RCV Id: RCV000673637
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Lys2000del
CA658823549
NM_014363.6:c.5999_6001del