ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826578559
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
311505
ClinVar RCV Id:
RCV000385354
RCV003750783
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Lys3784Arg
CA6910218
NM_001278055.2:c.11351A>G