Canonical Allele Identifier: PA2828095348
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238078
ClinVar RCV Id: RCV000226974 RCV000564490 RCV001675679 RCV003998837
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Pro1671Ser
CA054437
NM_001363528.2:c.5011C>T