Canonical Allele Identifier: PA2827000985
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 405972
ClinVar RCV Id: RCV000457917 RCV001017372 RCV002244933 RCV003463864
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Leu335Pro
CA16614653
NM_001318827.2:c.1004T>C