Canonical Allele Identifier: PA2829978522
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_066399.2:p.Pro1055Arg
CA045581
NM_021055.3:c.3164C>G