Canonical Allele Identifier: PA2827011227
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467894
ClinVar RCV Id: RCV000548111 RCV003999257 RCV003302845
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Val542Ile
CA276735673
NM_001318829.2:c.1624G>A