ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826579019
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2200977
ClinVar RCV Id:
RCV002638489
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Ile4420Val
CA387504673
NM_001278055.2:c.13258A>G