Canonical Allele Identifier: PA2825955106
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1404503
ClinVar RCV Id: RCV001927754
ClinVar Variation Id: 2107219
ClinVar RCV Id: RCV003045571

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Met158Leu
CA375372398
NM_001162427.2:c.472A>C
CA375372401
NM_001162427.2:c.472A>T