ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826576774
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290868
ClinVar RCV Id:
RCV000333351
RCV001089050
RCV001782779
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Pro1280Thr
CA6911409
NM_001278055.2:c.3838C>A