Canonical Allele Identifier: PA2828095533
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468161
ClinVar RCV Id: RCV000548829 RCV000615984 RCV002350301
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Thr1714Pro
CA276760048
NM_001363528.2:c.5140A>C