ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829983465
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
651314
ClinVar RCV Id:
RCV000806641
RCV003461161
RCV003380734
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Thr1690Ala
CA394314229
NM_021055.3:c.5068A>G