ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826577973
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2154137
ClinVar RCV Id:
RCV003069124
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.His2983Arg
CA6910627
NM_001278055.2:c.8948A>G