Canonical Allele Identifier: PA2828419249
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49566
ClinVar RCV Id: RCV000042826

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Trp1017Arg
CA018659
NM_001370405.1:c.3049T>C
CA394285514
NM_001370405.1:c.3049T>A