Canonical Allele Identifier: PA2828418180
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 184386
ClinVar RCV Id: RCV000163633 RCV000189993 RCV000230256 RCV002053949 RCV003995264
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Arg691Cys
CA016553
NM_001370405.1:c.2071C>T