Canonical Allele Identifier: PA107631
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49770
ClinVar RCV Id: RCV000043035 RCV000190021 RCV000190880 RCV002453340 RCV002490595 RCV004537174
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Arg1200Trp
CA019313
NM_000548.5:c.3598C>T