Canonical Allele Identifier: PA2828060108
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 514704

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Pro480Leu
CA029825
NM_001362177.1:c.1439C>T