Canonical Allele Identifier: PA2827002015
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535897
ClinVar RCV Id: RCV000644120 RCV002422322 RCV004003997
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Ser627Tyr
CA394274408
NM_001318827.2:c.1880C>A