Canonical Allele Identifier: PA658680579
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467864
ClinVar RCV Id: RCV000532223 RCV001011150 RCV003470757 RCV003999250 RCV001770439
ClinVar Variation Id: 1042948
ClinVar RCV Id: RCV001346983 RCV002384481 RCV004005209
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Phe452Leu
CA029417
NM_000548.5:c.1356C>A
CA394323342
NM_000548.5:c.1354T>C
CA394323377
NM_000548.5:c.1356C>G