Canonical Allele Identifier: PA645437314
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 240900
ClinVar RCV Id: RCV000225857 RCV000676365 RCV001578942
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Asp1950Asn
CA6911186
NM_014363.6:c.5848G>A