Canonical Allele Identifier: PA2827004936
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49464
ClinVar RCV Id: RCV000042724 RCV001508405 RCV001852888 RCV003162357
ClinVar Variation Id: 2728549
ClinVar RCV Id: RCV003513445
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Gly1492Arg
CA021000
NM_001318827.2:c.4474G>A
CA394307955
NM_001318827.2:c.4474G>C