Canonical Allele Identifier: PA2827005499
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49961
ClinVar RCV Id: RCV000043228 RCV003511996
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Arg1640Pro
CA022224
NM_001318827.2:c.4919G>C