Canonical Allele Identifier: PA2827020049
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468092
ClinVar RCV Id: RCV000546695
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Gln1447Arg
CA394302741
NM_001318832.2:c.4340A>G