Canonical Allele Identifier: PA2828419697
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 384002
ClinVar RCV Id: RCV000435796 RCV001020594 RCV001797719
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ala1142Val
CA16607153
NM_001370405.1:c.3425C>T