Canonical Allele Identifier: PA2826576022
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448230
ClinVar RCV Id: RCV001083131 RCV001112021 RCV000518798
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Gly178Arg
CA6911994
NM_001278055.2:c.532G>A
CA387550627
NM_001278055.2:c.532G>C