Canonical Allele Identifier: PA2825955417
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 231741
ClinVar RCV Id: RCV000221166 RCV000966584 RCV003417788 RCV003997921
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Pro260Arg
CA039782
NM_001162427.2:c.779C>G