Canonical Allele Identifier: PA2828418182
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207725
ClinVar RCV Id: RCV000189994 RCV001014296 RCV001083287 RCV003996887
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Arg691Leu
CA036218
NM_001370405.1:c.2072G>T