Canonical Allele Identifier: PA2826576993
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 311541
ClinVar RCV Id: RCV000354216 RCV000876841 RCV001848101
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Thr1594Ile
CA6911277
NM_001278055.2:c.4781C>T