Canonical Allele Identifier: PA262767
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49566
ClinVar RCV Id: RCV000042826

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Trp1060Arg
CA018659
NM_000548.5:c.3178T>C
CA394285514
NM_000548.5:c.3178T>A