Canonical Allele Identifier: PA2827001436
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 655069
ClinVar RCV Id: RCV000811171
ClinVar Variation Id: 1720529
ClinVar RCV Id: RCV002298256
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Leu474Phe
CA031010
NM_001318827.2:c.1422G>T
CA394326294
NM_001318827.2:c.1422G>C