ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825181615
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1408964
ClinVar RCV Id:
RCV001909636
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Ser581Cys
CA394272745
NM_000548.5:c.1741A>T