Canonical Allele Identifier: PA2827020169
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49308
ClinVar RCV Id: RCV000042567
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Leu1478His
CA020740
NM_001318832.2:c.4433T>A