Canonical Allele Identifier: PA2828094644
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1519233
ClinVar RCV Id: RCV002024455
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Tyr1483His
CA394304973
NM_001363528.2:c.4447T>C