Canonical Allele Identifier: PA2827018832
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535973
ClinVar RCV Id: RCV000644221 RCV001565707 RCV004004016
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Arg1096His
CA394286758
NM_001318832.2:c.3287G>A