Canonical Allele Identifier: PA2828421526
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49456
ClinVar RCV Id: RCV000042716 RCV000233434 RCV000576072 RCV001079298 RCV004537167 RCV003153329
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Arg1663His
CA021767
NM_001370405.1:c.4988G>A