Canonical Allele Identifier: PA2827000675
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238094
ClinVar RCV Id: RCV000231955 RCV001534673 RCV002256137 RCV003998843
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.His241Arg
CA10583286
NM_001318827.2:c.722A>G