Canonical Allele Identifier: PA2827019280
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468039
ClinVar RCV Id: RCV000526703 RCV002350296
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Lys1229Arg
CA048406
NM_001318832.2:c.3686A>G