Canonical Allele Identifier: PA2827003371
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 536003
ClinVar RCV Id: RCV000644263 RCV001020148 RCV000765272 RCV003222074
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Arg1047Gln
CA046441
NM_001318827.2:c.3140G>A