Canonical Allele Identifier: PA2827019949
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_001305761.1:p.Glu1420Lys
CA051101
NM_001318832.2:c.4258G>A