Canonical Allele Identifier: PA2828416775
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207707
ClinVar RCV Id: RCV000527430 RCV000568400 RCV004537594
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ala289Val
CA056623
NM_001370405.1:c.866C>T