Canonical Allele Identifier: PA2825954452
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_001155898.1:p.Pro1057Thr
CA375367153
NM_001162426.2:c.3169C>A