ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826577735
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
240902
ClinVar RCV Id:
RCV000341299
RCV000676358
RCV001847977
RCV001083821
RCV002222460
RCV003929987
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Phe2633Cys
CA6910780
NM_001278055.2:c.7898T>G