Canonical Allele Identifier: PA2827016454
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 372688
ClinVar RCV Id: RCV001023775 RCV000689057 RCV001705542
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Arg1501His
CA054529
NM_001318831.2:c.4502G>A