Canonical Allele Identifier: PA2827019147
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2626434
ClinVar RCV Id: RCV003382414
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Asp1189Glu
CA394292130
NM_001318832.2:c.3567C>A
CA394292131
NM_001318832.2:c.3567C>G