ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826577188
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288238
ClinVar RCV Id:
RCV000390861
RCV000401468
RCV001087895
RCV001848064
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Asp1856Val
CA6911152
NM_001278055.2:c.5567A>T