Canonical Allele Identifier: PA2827001121
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 184138
ClinVar RCV Id: RCV000163295 RCV000189884 RCV000726305 RCV001081464 RCV001120921 RCV004544488
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Ala378Val
CA014143
NM_001318827.2:c.1133C>T