Canonical Allele Identifier: PA2828091206
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1774028
ClinVar RCV Id: RCV002389945 RCV003512169
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Asp501Asn
CA394326047
NM_001363528.2:c.1501G>A