Canonical Allele Identifier: PA239315
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 193709
ClinVar RCV Id: RCV000173860 RCV000400126 RCV001085181
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Glu881Asp
CA239314
NM_014363.6:c.2643G>C
CA387538450
NM_014363.6:c.2643G>T