ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827003985
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65285
ClinVar RCV Id:
RCV000055507
RCV000055604
RCV000190025
RCV000458400
RCV000571810
RCV001703964
RCV004542721
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Thr1227Met
CA019782
NM_001318827.2:c.3680C>T