ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828095543
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
574864
ClinVar RCV Id:
RCV000696912
RCV002343495
RCV002477587
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Ala1716Ser
CA394315696
NM_001363528.2:c.5146G>T