Canonical Allele Identifier: PA915976339
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 452681
ClinVar RCV Id: RCV000521160 RCV000644179 RCV004023617
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Pro1267Ser
CA048474
NM_001114382.3:c.3799C>T