Canonical Allele Identifier: PA2828421643
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238078
ClinVar RCV Id: RCV000226974 RCV000564490 RCV001675679 RCV003998837
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Pro1690Ser
CA054437
NM_001370405.1:c.5068C>T