ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827008256
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
480854
ClinVar RCV Id:
RCV000563535
RCV000924510
RCV001577990
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Glu880Lys
CA041991
NM_001318829.2:c.2638G>A