Canonical Allele Identifier: PA2827001517
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 64976
ClinVar RCV Id: RCV000055179 RCV000231616 RCV000431368 RCV000564084 RCV001703957 RCV004537240
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Arg500Cys
CA015300
NM_001318827.2:c.1498C>T