ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826576668
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282906
ClinVar RCV Id:
RCV000269188
RCV000282202
RCV000861200
RCV001086494
RCV001848052
RCV003947857
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Ile1104Thr
CA6911480
NM_001278055.2:c.3311T>C