Canonical Allele Identifier: PA164916
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49597
ClinVar RCV Id: RCV000042858 RCV000129683 RCV000227547 RCV001703935
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Arg718Pro
CA016844
NM_000548.5:c.2153G>C