Canonical Allele Identifier: PA2580354847
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2074905
ClinVar RCV Id: RCV002982341
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Ala3323Val
CA387513257
NM_014363.6:c.9968C>T