Canonical Allele Identifier: PA916022821
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207741
ClinVar RCV Id: RCV000190014 RCV000766975 RCV000562972 RCV001085820 RCV003462294 RCV004528972 RCV003996892
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Glu969Lys
CA319501
NM_001318827.2:c.2905G>A