ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826577825
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2039616
ClinVar RCV Id:
RCV002900029
RCV003482423
RCV004065999
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Arg2785Gln
CA6910717
NM_001278055.2:c.8354G>A