Canonical Allele Identifier: PA1139689029
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 954021
ClinVar RCV Id: RCV001226403
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Thr995Asn
CA394285972
NM_001318827.2:c.2984C>A