Canonical Allele Identifier: PA915986921
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 41700
ClinVar Variation Id: 759562
ClinVar Variation Id: 1079956
ClinVar RCV Id: RCV001395453

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Met322Thr
CA008447
NM_001162426.2:c.965T>C
CA915947255
NM_001162426.2:c.965_966delinsCT
CA2499219723
NM_001162426.2:c.965_966delinsCA