Canonical Allele Identifier: PA2827009233
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207680
ClinVar RCV Id: RCV000471216 RCV000567838 RCV001082119 RCV003479052
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Ser1250Leu
CA050423
NM_001318829.2:c.3749C>T