Canonical Allele Identifier: PA2827020828
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49930
ClinVar RCV Id: RCV000043197 RCV000129852 RCV000254730 RCV000459221 RCV000763367
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Arg1657His
CA021840
NM_001318832.2:c.4970G>A