Canonical Allele Identifier: PA2580116643
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2119302
ClinVar RCV Id: RCV003054591

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Ile1747_Arg1751delinsSer
CA2580091167
NM_000548.5:c.5240_5251del