ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826577867
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2504674
ClinVar RCV Id:
RCV003234265
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Leu2834Pro
CA387515533
NM_001278055.2:c.8501T>C