Canonical Allele Identifier: PA2825955241
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3069949
ClinVar RCV Id: RCV004009981

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Thr310Ser
CA375368732
NM_001162426.2:c.929C>G
CA375368734
NM_001162426.2:c.928A>T