Canonical Allele Identifier: PA645437483
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 311536
ClinVar RCV Id: RCV000347234 RCV000517759 RCV000699474 RCV004021565
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Gly2020Glu
CA6911144
NM_014363.6:c.6059G>A