Canonical Allele Identifier: PA2825185799
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1050887
ClinVar RCV Id: RCV001358846
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Leu1228Met
CA394292351
NM_000548.5:c.3682C>A