ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826577616
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
882185
ClinVar RCV Id:
RCV001111638
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Asn2459Ser
CA387518147
NM_001278055.2:c.7376A>G