Canonical Allele Identifier: PA2828091181
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207716
ClinVar RCV Id: RCV000189981 RCV001857664
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Leu493Phe
CA319444
NM_001363528.2:c.1477C>T