Canonical Allele Identifier: PA2827012091
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49528
ClinVar RCV Id: RCV000042788 RCV000996158
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Trp1116Arg
CA019404
NM_001318829.2:c.3346T>C
CA394291505
NM_001318829.2:c.3346T>A