ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826577331
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
458272
ClinVar RCV Id:
RCV000538701
RCV000765122
RCV002528313
RCV003482278
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Arg2067Cys
CA6911049
NM_001278055.2:c.6199C>T