Canonical Allele Identifier: PA2825575623
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 390104
ClinVar RCV Id: RCV000438616 RCV003766401
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Pro1158Ala
CA046994
NM_001114382.3:c.3472C>G