Canonical Allele Identifier: PA2827005599
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535888
ClinVar RCV Id: RCV000644107 RCV001568107 RCV002343304 RCV004003995
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Pro1663Leu
CA276759930
NM_001318827.2:c.4988C>T