ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826576084
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
502678
ClinVar RCV Id:
RCV000596296
RCV002062107
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Arg254Gln
CA6911955
NM_001278055.2:c.761G>A