Canonical Allele Identifier: PA645437232
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 311560
ClinVar RCV Id: RCV000375874 RCV002520870
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Pro547Leu
CA6911879
NM_014363.6:c.1640C>T