Canonical Allele Identifier: PA2827007953
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50182
ClinVar RCV Id: RCV000043451 RCV000430436 RCV001705694
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Pro767Leu
CA017430
NM_001318829.2:c.2300C>T