Canonical Allele Identifier: PA2828420511
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 318330
ClinVar RCV Id: RCV000357832 RCV000461781 RCV000575927 RCV001548444
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ala1386Val
CA050774
NM_001370405.1:c.4157C>T