Canonical Allele Identifier: PA2827019486
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49282
ClinVar RCV Id: RCV000042541 RCV000457664 RCV002354223 RCV001703933 RCV004537163
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Ser1285Arg
CA019836
NM_001318832.2:c.3855C>A
CA394299190
NM_001318832.2:c.3853A>C
CA394299211
NM_001318832.2:c.3855C>G