Canonical Allele Identifier: PA2828418139
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 230458
ClinVar RCV Id: RCV000218035 RCV000644083 RCV003225044 RCV003997840
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Arg680Trp
CA10579879
NM_001370405.1:c.2038C>T