Canonical Allele Identifier: PA2828419591
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535917
ClinVar RCV Id: RCV000644147 RCV002285386 RCV002460101 RCV004004002
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Pro1113Leu
CA046958
NM_001370405.1:c.3338C>T