Canonical Allele Identifier: PA2828091221
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 64996
ClinVar RCV Id: RCV000055200 RCV000688733 RCV001011980 RCV001085948
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Arg505Gln
CA015034
NM_001363528.2:c.1514G>A