Canonical Allele Identifier: PA2826577031
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1343992
ClinVar RCV Id: RCV001847537
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Met1648Ile
CA387525785
NM_001278055.2:c.4944G>A
CA387525786
NM_001278055.2:c.4944G>C
CA387525787
NM_001278055.2:c.4944G>T