Canonical Allele Identifier: PA2827004131
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49556
ClinVar RCV Id: RCV000042816 RCV000565844 RCV000726579 RCV001082851 RCV004541222 RCV003488361
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Arg1266Trp
CA019949
NM_001318827.2:c.3796C>T