Canonical Allele Identifier: PA2828415334
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65146
ClinVar RCV Id: RCV000055361 RCV000644174 RCV002336202 RCV003996478 RCV004537241
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Met1647Thr
CA021670
NM_001370404.1:c.4940T>C