Canonical Allele Identifier: PA2580354543
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1978542
ClinVar RCV Id: RCV002741867
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Ala2007Pro
CA387524079
NM_014363.6:c.6019G>C