Canonical Allele Identifier: PA2827003827
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 389507
ClinVar RCV Id: RCV000422551 RCV001088069 RCV002256234 RCV004000516
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Pro1183Leu
CA16607157
NM_001318827.2:c.3548C>T