Canonical Allele Identifier: PA2828413466
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49755
ClinVar RCV Id: RCV000043020 RCV000177445 RCV000565521 RCV000724630 RCV001086436
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Arg1115Gln
CA019197
NM_001370404.1:c.3344G>A