Canonical Allele Identifier: PA2825439139
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 135390
ClinVar RCV Id: RCV000122239 RCV000477100 RCV000572602
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.Arg1567His
CA021194
NM_001077183.3:c.4700G>A