Canonical Allele Identifier: PA2828421235
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 318334
ClinVar RCV Id: RCV000371761 RCV001023201 RCV000839227 RCV001079540 RCV004537797
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Val1587Met
CA10648023
NM_001370405.1:c.4759G>A