Canonical Allele Identifier: PA2825437270
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535907
ClinVar Variation Id: 1729298
ClinVar RCV Id: RCV002445598

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.Leu1036Phe
CA044925
NM_001077183.3:c.3108A>C
CA394286083
NM_001077183.3:c.3108A>T