Canonical Allele Identifier: PA2828413222
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 141472
ClinVar RCV Id: RCV000130015 RCV000189914 RCV000471098 RCV003477541
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Pro1048Leu
CA018797
NM_001370404.1:c.3143C>T