ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826577792
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
522555
ClinVar RCV Id:
RCV000625698
RCV001439415
RCV001848999
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Asn2713Ser
CA6910745
NM_001278055.2:c.8138A>G