Canonical Allele Identifier: PA2827020548
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49333
ClinVar RCV Id: RCV000042593 RCV001042053
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.His1584Tyr
CA021270
NM_001318832.2:c.4750C>T