Canonical Allele Identifier: PA2828414541
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207685
ClinVar RCV Id: RCV000189932 RCV000218843 RCV000458406 RCV003996870
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Glu1432Lys
CA051101
NM_001370404.1:c.4294G>A