Canonical Allele Identifier: PA2826578085
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2188083
ClinVar RCV Id: RCV002616259
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Lys3129Asn
CA387513566
NM_001278055.2:c.9387A>T
CA387513567
NM_001278055.2:c.9387A>C