ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658664533
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448198
ClinVar RCV Id:
RCV000820462
RCV001111916
RCV000518481
RCV002525072
RCV001848891
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Ile868Val
CA6911659
NM_014363.6:c.2602A>G