Canonical Allele Identifier: PA2827011982
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 405972
ClinVar RCV Id: RCV000457917 RCV001017372 RCV002244933 RCV003463864
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Leu172Pro
CA16614653
NM_001318831.2:c.515T>C