Canonical Allele Identifier: PA2828410632
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535930
ClinVar RCV Id: RCV000644160 RCV002369704 RCV004004005
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Asp288Glu
CA276775635
NM_001370404.1:c.864C>G
CA394315011
NM_001370404.1:c.864C>A