Canonical Allele Identifier: PA2825572370
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486635
ClinVar RCV Id: RCV000574722 RCV000644193 RCV004001156
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Trp167Arg
CA394309129
NM_001114382.3:c.499T>A
CA394309132
NM_001114382.3:c.499T>C