Canonical Allele Identifier: PA2828419245
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 452351
ClinVar RCV Id: RCV000521882

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Thr1016Ser
CA394285482
NM_001370405.1:c.3046A>T
CA394285499
NM_001370405.1:c.3047C>G