Canonical Allele Identifier: PA2827006904
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50195
ClinVar RCV Id: RCV000043464 RCV000482403
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Leu417Arg
CA014742
NM_001318829.2:c.1250T>G