Canonical Allele Identifier: PA2827002595
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41732
ClinVar RCV Id: RCV000034649 RCV000054857 RCV000163390 RCV000176271 RCV000989426
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Leu789Met
CA017492
NM_001318827.2:c.2365C>A