Canonical Allele Identifier: PA2828412514
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49751
ClinVar RCV Id: RCV000043016 RCV000473440
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Leu826Pro
CA017496
NM_001370404.1:c.2477T>C