Canonical Allele Identifier: PA2827010319
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1000279
ClinVar RCV Id: RCV001751562 RCV001296392 RCV003294205
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Met1600Thr
CA054058
NM_001318829.2:c.4799T>C