Canonical Allele Identifier: PA2828420277
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238043
ClinVar RCV Id: RCV000230305 RCV000399172 RCV002243904 RCV002321860 RCV003463659
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Pro1315Ala
CA10583332
NM_001370405.1:c.3943C>G