Canonical Allele Identifier: PA107882
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49874
ClinVar RCV Id: RCV000043140 RCV001216513
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Leu1027Pro
CA018468
NM_000548.5:c.3080T>C