ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826577166
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2116842
ClinVar RCV Id:
RCV003027440
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Glu1827Lys
CA387524286
NM_001278055.2:c.5479G>A