ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826579004
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496951
ClinVar RCV Id:
RCV000593641
RCV003465330
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Pro4392Ser
CA387504864
NM_001278055.2:c.13174C>T