Canonical Allele Identifier: PA2828414668
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 187598
ClinVar RCV Id: RCV000167342 RCV001230620 RCV001753574
ClinVar Variation Id: 468097
ClinVar RCV Id: RCV000535938 RCV000568343
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Phe1465Leu
CA020614
NM_001370404.1:c.4395C>A
CA394302825
NM_001370404.1:c.4393T>C
CA394302842
NM_001370404.1:c.4395C>G