Canonical Allele Identifier: PA2827004028
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49282
ClinVar RCV Id: RCV000042541 RCV000457664 RCV002354223 RCV001703933 RCV004537163
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Ser1238Arg
CA019836
NM_001318827.2:c.3714C>A
CA394299190
NM_001318827.2:c.3712A>C
CA394299211
NM_001318827.2:c.3714C>G