Canonical Allele Identifier: PA916023744
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65383
ClinVar RCV Id: RCV000055611 RCV000189898 RCV000204401 RCV000567608 RCV004542724
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Pro681Leu
CA016425
NM_001318832.2:c.2042C>T