Canonical Allele Identifier: PA658805032
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535887
ClinVar RCV Id: RCV000644106 RCV001014943 RCV000765269 RCV001580527
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Arg751Gln
CA276740000
NM_000548.5:c.2252G>A