Canonical Allele Identifier: PA2828414177
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49556
ClinVar RCV Id: RCV000042816 RCV000565844 RCV000726579 RCV001082851 RCV004541222 RCV003488361
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Arg1325Trp
CA019949
NM_001370404.1:c.3973C>T