ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826578219
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
964123
ClinVar RCV Id:
RCV001238280
RCV001834064
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Tyr3316His
CA387512326
NM_001278055.2:c.9946T>C