Canonical Allele Identifier: PA2828060430
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1433612
ClinVar RCV Id: RCV001982299

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Leu599Phe
CA375360827
NM_001362177.1:c.1795C>T