ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826577007
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
311540
ClinVar RCV Id:
RCV000297039
RCV002520867
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.His1621Tyr
CA6911269
NM_001278055.2:c.4861C>T