Canonical Allele Identifier: PA2825576495
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468084
ClinVar RCV Id: RCV000557731 RCV001022338 RCV003999314 RCV004527648
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Arg1428Ser
CA050936
NM_001114382.3:c.4282C>A