Canonical Allele Identifier: PA2828095080
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 64868
ClinVar RCV Id: RCV000055068 RCV000469641 RCV000563588 RCV001551734
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Val1607Ile
CA021497
NM_001363528.2:c.4819G>A