Canonical Allele Identifier: PA916023250
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486635
ClinVar RCV Id: RCV000574722 RCV000644193 RCV004001156
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Trp178Arg
CA394309129
NM_001318832.2:c.532T>A
CA394309132
NM_001318832.2:c.532T>C