Canonical Allele Identifier: PA2828092652
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207673
ClinVar Variation Id: 1007392

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Phe904Leu
CA041007
NM_001363528.2:c.2712C>G
CA394279475
NM_001363528.2:c.2710T>C
CA394279487
NM_001363528.2:c.2712C>A