ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916008718
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448201
ClinVar RCV Id:
RCV000517613
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Gly969Cys
CA387535743
NM_001278055.2:c.2905G>T