Canonical Allele Identifier: PA658659877
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 466122
ClinVar RCV Id: RCV000551227 RCV001578209 RCV002256369 RCV003999218
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Pro1058Thr
CA375367153
NM_000368.5:c.3172C>A