Canonical Allele Identifier: PA2827007913
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467940
ClinVar RCV Id: RCV000536678 RCV001755846 RCV001015392
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Arg750Cys
CA394277095
NM_001318829.2:c.2248C>T