Canonical Allele Identifier: PA658831641
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 553047
ClinVar RCV Id: RCV000668420
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Leu4279del
CA658823518
NM_014363.6:c.12835_12837del