Canonical Allele Identifier: PA2828415556
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 372688
ClinVar RCV Id: RCV001023775 RCV000689057 RCV001705542
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Arg1701His
CA054529
NM_001370404.1:c.5102G>A