Canonical Allele Identifier: PA658801468
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 534444

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Thr417Lys
CA375366761
NM_000368.5:c.1250C>A