Canonical Allele Identifier: PA253514
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 5517
ClinVar RCV Id: RCV000005852 RCV001851682 RCV003415662
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Trp1799Arg
CA253513
NM_001278055.2:c.5395T>C
CA387524624
NM_001278055.2:c.5395T>A