Canonical Allele Identifier: PA2825436218
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 184386
ClinVar RCV Id: RCV000163633 RCV000189993 RCV000230256 RCV002053949 RCV003995264
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.Arg691Cys
CA016553
NM_001077183.3:c.2071C>T