Canonical Allele Identifier: PA2828421635
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468147
ClinVar RCV Id: RCV000550602 RCV002341373 RCV000604770 RCV003999327 RCV004538003
ClinVar Variation Id: 2806460
ClinVar RCV Id: RCV003627753
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ile1688Val
CA054409
NM_001370405.1:c.5062A>G
CA2739269936
NM_001370405.1:c.5061_5062delinsCG