ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826577875
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
311515
ClinVar RCV Id:
RCV000315960
RCV001411302
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Arg2850Gln
CA6910682
NM_001278055.2:c.8549G>A