Canonical Allele Identifier: PA2825437343
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_001070651.1:p.Pro1054Arg
CA045581
NM_001077183.3:c.3161C>G