Canonical Allele Identifier: PA2827016509
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406110
ClinVar RCV Id: RCV000471307 RCV004022585
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Glu1513Asp
CA16614803
NM_001318831.2:c.4539A>C
CA394315121
NM_001318831.2:c.4539A>T