Canonical Allele Identifier: PA2828090384
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 536104
ClinVar RCV Id: RCV001026437 RCV000644409 RCV003328614
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Asn248Ser
CA056283
NM_001363528.2:c.743A>G