Canonical Allele Identifier: PA2826578306
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 805282
ClinVar RCV Id: RCV000992771 RCV001274920
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Met3432Ile
CA6910403
NM_001278055.2:c.10296G>A
CA6910404
NM_001278055.2:c.10296G>T
CA387511531
NM_001278055.2:c.10296G>C