Canonical Allele Identifier: PA2827003102
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1365142
ClinVar RCV Id: RCV001929717

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Met950Ile
CA394284670
NM_001318827.2:c.2850G>A
CA394284672
NM_001318827.2:c.2850G>C
CA394284674
NM_001318827.2:c.2850G>T