Canonical Allele Identifier: PA2828094485
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535877
ClinVar RCV Id: RCV000644095 RCV002331186 RCV004003991
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Ser1441Tyr
CA051496
NM_001363528.2:c.4322C>A