Canonical Allele Identifier: PA2827018372
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2100443
ClinVar RCV Id: RCV003025893
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Phe919Leu
CA394279532
NM_001318832.2:c.2755T>C
CA394279543
NM_001318832.2:c.2757T>G
CA394279545
NM_001318832.2:c.2757T>A