ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826577885
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1298566
ClinVar RCV Id:
RCV001726896
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Ile2868Val
CA246653632
NM_001278055.2:c.8602A>G