Canonical Allele Identifier: PA2825440488
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467942
ClinVar RCV Id: RCV000535705 RCV001015534 RCV003153712 RCV003999270
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.Val813Met
CA039041
NM_001077183.3:c.2437G>A