Canonical Allele Identifier: PA2827003267
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467999
ClinVar RCV Id: RCV000544493 RCV002316560 RCV003999287
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Pro1018Arg
CA045581
NM_001318827.2:c.3053C>G