Canonical Allele Identifier: PA239311
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 193707
ClinVar RCV Id: RCV000254363 RCV000515968 RCV000488235 RCV000674768 RCV001082378
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Asn4573His
CA239310
NM_014363.6:c.13717A>C