Canonical Allele Identifier: PA2827003706
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_001305756.1:p.Met1146Ile
CA394292285
NM_001318827.2:c.3438G>A
CA394292288
NM_001318827.2:c.3438G>C
CA394292292
NM_001318827.2:c.3438G>T