Canonical Allele Identifier: PA2827002509
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467940
ClinVar RCV Id: RCV000536678 RCV001755846 RCV001015392
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Arg762Cys
CA394277095
NM_001318827.2:c.2284C>T