ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826577456
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
311527
ClinVar RCV Id:
RCV000332938
RCV000863318
RCV001287913
RCV003930329
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Val2242Met
CA6910961
NM_001278055.2:c.6724G>A