Canonical Allele Identifier: PA262876
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49719
ClinVar RCV Id: RCV000042983 RCV001208145 RCV002433528
ClinVar Variation Id: 1472621
ClinVar RCV Id: RCV001969320
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Arg951Ser
CA018279
NM_000548.5:c.2853A>T
CA394280798
NM_000548.5:c.2853A>C