Canonical Allele Identifier: PA319503
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_000539.2:p.Glu1049Lys
CA319501
NM_000548.5:c.3145G>A