Canonical Allele Identifier: PA2828418136
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 589454
ClinVar RCV Id: RCV000815171 RCV002316686
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Arg680Gly
CA394274561
NM_001370405.1:c.2038C>G