Canonical Allele Identifier: PA2825955826
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1439395
ClinVar RCV Id: RCV001941291

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Met374Ile
CA375366202
NM_001162427.2:c.1122G>T
CA375366203
NM_001162427.2:c.1122G>C
CA375366204
NM_001162427.2:c.1122G>A