Canonical Allele Identifier: PA2827005621
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486616
ClinVar RCV Id: RCV000561599 RCV000609138 RCV000798867 RCV003736826
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Pro1668Ala
CA055040
NM_001318827.2:c.5002C>G