Canonical Allele Identifier: PA2828416416
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49846
ClinVar RCV Id: RCV000043112 RCV000419036 RCV000989415 RCV000729019 RCV001024017 RCV000781951
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Leu180Val
CA022465
NM_001370405.1:c.538C>G