Canonical Allele Identifier: PA2827001414
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_001305756.1:p.Arg468Gln
CA015034
NM_001318827.2:c.1403G>A