Canonical Allele Identifier: PA319525
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207750
ClinVar RCV Id: RCV001087396 RCV000713931 RCV002257482 RCV003996894
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Glu1344Lys
CA050233
NM_000548.5:c.4030G>A