ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826577560
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
260399
ClinVar RCV Id:
RCV000243536
RCV000710207
RCV001082626
RCV001112102
RCV001848029
RCV003891946
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Ala2363Thr
CA6910891
NM_001278055.2:c.7087G>A