ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826577049
Gene: SACS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002585846
RCV003481317
ClinVar Variation:
1900710
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Cys1674Tyr
CA6911246
NM_001278055.2:c.5021G>A