ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826577149
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
240900
ClinVar RCV Id:
RCV000225857
RCV000676365
RCV001578942
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Asp1803Asn
CA6911186
NM_001278055.2:c.5407G>A