ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826577852
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193711
ClinVar RCV Id:
RCV000173862
RCV000224353
RCV001084232
RCV001274927
RCV001847804
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Lys2811Arg
CA200741
NM_001278055.2:c.8432A>G