Canonical Allele Identifier: PA2827002461
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 374680
ClinVar RCV Id: RCV000415953 RCV001015130 RCV001079272
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Arg749Cys
CA038725
NM_001318827.2:c.2245C>T