Canonical Allele Identifier: PA2826577449
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 285241
ClinVar RCV Id: RCV000338875 RCV000725615 RCV001079763 RCV001109417 RCV002519175
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Asn2233Lys
CA6910967
NM_001278055.2:c.6699T>A
CA387519950
NM_001278055.2:c.6699T>G