Canonical Allele Identifier: PA2825572448
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207702
ClinVar RCV Id: RCV000189961 RCV000219746 RCV000698793 RCV003996877
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Glu193Lys
CA055433
NM_001114382.3:c.577G>A