Canonical Allele Identifier: PA2828418095
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65383
ClinVar RCV Id: RCV000055611 RCV000189898 RCV000204401 RCV000567608 RCV004542724
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Pro670Leu
CA016425
NM_001370405.1:c.2009C>T