Canonical Allele Identifier: PA2828419604
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_001357334.1:p.Arg1116Gln
CA019197
NM_001370405.1:c.3347G>A