Canonical Allele Identifier: PA2829979537
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1403189
ClinVar RCV Id: RCV001908923
ClinVar Variation Id: 3031576
ClinVar RCV Id: RCV004534492

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Met1183Ile
CA394292285
NM_021055.3:c.3549G>A
CA394292288
NM_021055.3:c.3549G>C
CA394292292
NM_021055.3:c.3549G>T