Canonical Allele Identifier: PA2828417898
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49775
ClinVar RCV Id: RCV000043040 RCV000713916 RCV001379863
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Arg622Pro
CA016103
NM_001370405.1:c.1865G>C