Canonical Allele Identifier: PA165220
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49930
ClinVar RCV Id: RCV000043197 RCV000129852 RCV000254730 RCV000459221 RCV000763367
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Arg1713His
CA021840
NM_000548.5:c.5138G>A