ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094434
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
989207
ClinVar RCV Id:
RCV001391619
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Arg1575Pro
CA387527940
NM_014363.6:c.4724G>C