Canonical Allele Identifier: PA2828418141
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 237977
ClinVar RCV Id: RCV000226719 RCV001014169
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Leu681Gln
CA10583301
NM_001370405.1:c.2042T>A