ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829763554
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2083461
ClinVar RCV Id:
RCV003002548
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Arg179Gly
CA6912061
NM_014363.6:c.535A>G