Canonical Allele Identifier: PA2828095239
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406029
ClinVar RCV Id: RCV000466636 RCV002348293
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Arg1647Cys
CA054033
NM_001363528.2:c.4939C>T