Canonical Allele Identifier: PA2827001850
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 385710
ClinVar RCV Id: RCV000424565 RCV001865357
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Ala586Val
CA16608037
NM_001318827.2:c.1757C>T