ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826577160
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2185869
ClinVar RCV Id:
RCV002596364
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Ile1820Thr
CA6911175
NM_001278055.2:c.5459T>C