Canonical Allele Identifier: PA2828094866
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49325
ClinVar RCV Id: RCV000042585 RCV000201210 RCV001283509
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Ile1548del
CA021081
NM_001363528.2:c.4644_4646del