ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829980172
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_066399.2:p.Thr1287Met
CA019782
NM_021055.3:c.3860C>T