Canonical Allele Identifier: PA2828411217
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50194
ClinVar RCV Id: RCV000043463 RCV000807349
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Leu466Pro
CA014733
NM_001370404.1:c.1397T>C