Canonical Allele Identifier: PA2827012948
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49775
ClinVar RCV Id: RCV000043040 RCV000713916 RCV001379863
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Arg422Pro
CA016103
NM_001318831.2:c.1265G>C