Canonical Allele Identifier: PA916023129
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49770
ClinVar RCV Id: RCV000043035 RCV000190021 RCV000190880 RCV002453340 RCV002490595 RCV004537174
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Arg956Trp
CA019313
NM_001318831.2:c.2866C>T