ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826578735
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
946482
ClinVar RCV Id:
RCV001217357
RCV001828724
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Thr4020Ile
CA6910139
NM_001278055.2:c.12059C>T