Canonical Allele Identifier: PA2827007387
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 186281
ClinVar RCV Id: RCV000165847 RCV000531841 RCV001548583 RCV003995458
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Arg579His
CA016151
NM_001318829.2:c.1736G>A