Canonical Allele Identifier: PA2827003845
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65034
ClinVar RCV Id: RCV000055239 RCV000231146 RCV000566058 RCV001711223
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Arg1188His
CA019556
NM_001318827.2:c.3563G>A