Canonical Allele Identifier: PA658664538
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 458262
ClinVar RCV Id: RCV000558806 RCV001835846 RCV002473048
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.His951Gln
CA6911606
NM_014363.6:c.2853C>A
CA387537475
NM_014363.6:c.2853C>G