Canonical Allele Identifier: PA2827018664
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49248
ClinVar RCV Id: RCV000042507 RCV000229678 RCV003343620
ClinVar Variation Id: 1348312
ClinVar RCV Id: RCV002044253
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Asp1051Glu
CA018744
NM_001318832.2:c.3153C>G
CA394286142
NM_001318832.2:c.3153C>A