Canonical Allele Identifier: PA2827004371
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50125
ClinVar RCV Id: RCV000043392 RCV000536583 RCV001022298 RCV004537180
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Glu1339Lys
CA020286
NM_001318827.2:c.4015G>A