Canonical Allele Identifier: PA2829763897
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2177725
ClinVar RCV Id: RCV002585687
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Val1048Ile
CA6911562
NM_014363.6:c.3142G>A