ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826577168
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
311538
ClinVar RCV Id:
RCV000350600
RCV000550324
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Lys1830Arg
CA6911170
NM_001278055.2:c.5489A>G