Canonical Allele Identifier: PA2826577855
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 805306
ClinVar RCV Id: RCV000992800 RCV001784524
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Phe2816Leu
CA6910701
NM_001278055.2:c.8448C>A
CA387515644
NM_001278055.2:c.8448C>G
CA387515648
NM_001278055.2:c.8446T>C