Canonical Allele Identifier: PA2828411794
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 379559
ClinVar RCV Id: RCV000546851 RCV000444052 RCV002411311 RCV000767144
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Gly630Asp
CA16606929
NM_001370404.1:c.1889G>A