Canonical Allele Identifier: PA319505
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207742
ClinVar RCV Id: RCV000531095 RCV000765271 RCV002321770
ClinVar Variation Id: 3232136
ClinVar RCV Id: RCV004520819
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Gly1076Arg
CA044834
NM_000548.5:c.3226G>A
CA394285992
NM_000548.5:c.3226G>C