ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826576427
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
458259
ClinVar RCV Id:
RCV000545527
RCV001834757
RCV001848921
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Val704Phe
CA6911670
NM_001278055.2:c.2110G>T