Canonical Allele Identifier: PA2827012974
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49603
ClinVar RCV Id: RCV000042864 RCV000707631 RCV001013512 RCV003151740
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Arg428Gly
CA016143
NM_001318831.2:c.1282C>G