Canonical Allele Identifier: PA2828421740
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 536110
ClinVar RCV Id: RCV001023842 RCV001513329 RCV004004052
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ala1712Val
CA054932
NM_001370405.1:c.5135C>T