ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826577037
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448207
ClinVar RCV Id:
RCV000516475
RCV000863881
RCV001109527
RCV003900079
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Glu1660Lys
CA6911250
NM_001278055.2:c.4978G>A