Canonical Allele Identifier: PA2828418951
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65065
ClinVar RCV Id: RCV000055272 RCV000574785 RCV000533205 RCV001531839
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Arg917Gln
CA018086
NM_001370405.1:c.2750G>A