Canonical Allele Identifier: PA2825577823
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49371
ClinVar RCV Id: RCV000042631
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Arg1772Leu
CA022452
NM_001114382.3:c.5315G>T