Canonical Allele Identifier: PA2827016049
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 318335
ClinVar RCV Id: RCV000340816 RCV000475549 RCV002338902
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Asp1400Asn
CA053097
NM_001318831.2:c.4198G>A