Canonical Allele Identifier: PA2826577659
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 311521
ClinVar RCV Id: RCV000306392 RCV000516257 RCV001477679
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Phe2527Leu
CA6910830
NM_001278055.2:c.7581T>G
CA387517557
NM_001278055.2:c.7581T>A
CA387517562
NM_001278055.2:c.7579T>C