Canonical Allele Identifier: PA2828418003
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467907
ClinVar RCV Id: RCV000576099 RCV000559856 RCV001558235 RCV003999261
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Met649Val
CA034654
NM_001370405.1:c.1945A>G