ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827018383
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1795355
ClinVar RCV Id:
RCV002437540
RCV003512186
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Thr924Pro
CA394279610
NM_001318832.2:c.2770A>C