Canonical Allele Identifier: PA2828419487
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 64927
ClinVar RCV Id: RCV000055129 RCV000465863 RCV001020133 RCV001697040
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Asp1083Val
CA019052
NM_001370405.1:c.3248A>T