Canonical Allele Identifier: PA2828409920
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467927
ClinVar RCV Id: RCV000549108 RCV001014482 RCV003459239 RCV003999266
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Lys72Arg
CA394303587
NM_001370404.1:c.215A>G