Canonical Allele Identifier: PA2828420471
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535982
ClinVar RCV Id: RCV000644231 RCV002331191
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Arg1374Trp
CA050704
NM_001370405.1:c.4120C>T