Canonical Allele Identifier: PA2825955147
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 5104
ClinVar RCV Id: RCV000005411 RCV000042336
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Met173Arg
CA008014
NM_001162427.2:c.518T>G