Canonical Allele Identifier: PA2828414830
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49310
ClinVar RCV Id: RCV000042570 RCV000691590 RCV002336157
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Glu1508del
CA020824
NM_001370404.1:c.4523_4525del