Canonical Allele Identifier: PA2828419146
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49874
ClinVar RCV Id: RCV000043140 RCV001216513
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Leu984Pro
CA018468
NM_001370405.1:c.2951T>C