Canonical Allele Identifier: PA2828417548
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 421682
ClinVar RCV Id: RCV001704636 RCV002402406 RCV001359632
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ile531Met
CA16620088
NM_001370405.1:c.1593C>G