ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916008686
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450379
ClinVar RCV Id:
RCV000522663
RCV000674847
RCV001224412
RCV003323587
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Ser61Ile
CA246678645
NM_001278055.2:c.182G>T