Canonical Allele Identifier: PA916023912
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_001305761.1:p.Pro827Leu
CA017430
NM_001318832.2:c.2480C>T