Canonical Allele Identifier: PA658664678
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448227
ClinVar RCV Id: RCV000518535 RCV000765119 RCV001085517 RCV001644612 RCV001848898
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Arg2991His
CA6910684
NM_014363.6:c.8972G>A