ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828412061
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50106
ClinVar RCV Id:
RCV000043373
RCV000490930
RCV001240824
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Cys696Tyr
CA016643
NM_001370404.1:c.2087G>A