Canonical Allele Identifier: PA2829981080
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49293
ClinVar RCV Id: RCV000042552 RCV000562910 RCV000713934 RCV001079491
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Pro1407Arg
CA020293
NM_021055.3:c.4220C>G