Canonical Allele Identifier: PA2827020911
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1745939
ClinVar RCV Id: RCV002338531 RCV003464468 RCV003512158
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Pro1676Leu
CA394314204
NM_001318832.2:c.5027C>T