Canonical Allele Identifier: PA2827011140
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41747
ClinVar RCV Id: RCV000034664 RCV000567483 RCV001088019 RCV004534725
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Val1675Met
CA022424
NM_001318829.2:c.5023G>A