ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826579013
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2913932
ClinVar RCV Id:
RCV003751473
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Met4411Val
CA387504739
NM_001278055.2:c.13231A>G