ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826577192
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1978542
ClinVar RCV Id:
RCV002741867
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Ala1860Pro
CA387524079
NM_001278055.2:c.5578G>C