ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826576609
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
559186
ClinVar RCV Id:
RCV000676367
RCV001830473
RCV002531379
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Gly1022Ala
CA387534851
NM_001278055.2:c.3065G>C