Canonical Allele Identifier: PA2827005479
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406050
ClinVar RCV Id: RCV000473435 RCV001023737 RCV001546269
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Pro1634Leu
CA054450
NM_001318827.2:c.4901C>T