Canonical Allele Identifier: PA319548
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207760
ClinVar RCV Id: RCV000190042 RCV001084515 RCV002257483 RCV003153466 RCV004537599
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Arg1751His
CA054581
NM_000548.5:c.5252G>A