Canonical Allele Identifier: PA2827009448
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50124
ClinVar RCV Id: RCV000043391 RCV000543604 RCV001022275
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Arg1323Gln
CA020250
NM_001318829.2:c.3968G>A