Canonical Allele Identifier: PA2827018962
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50090
ClinVar RCV Id: RCV000043356 RCV000228930 RCV000567364 RCV001727553 RCV001699111 RCV004537179
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Ala1131Val
CA019211
NM_001318832.2:c.3392C>T