Canonical Allele Identifier: PA2827010367
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535931
ClinVar RCV Id: RCV000644161 RCV002334132
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.His1611Tyr
CA054330
NM_001318829.2:c.4831C>T