Canonical Allele Identifier: PA2828410485
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49896
ClinVar RCV Id: RCV000043163 RCV000478154
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Cys244Arg
CA022889
NM_001370404.1:c.730T>C