ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826577234
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2177416
ClinVar RCV Id:
RCV002585534
RCV003482443
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Val1913Ala
CA6911120
NM_001278055.2:c.5738T>C