ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826578799
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2197421
ClinVar RCV Id:
RCV002637682
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Ser4113Pro
CA6910087
NM_001278055.2:c.12337T>C