Canonical Allele Identifier: PA2827002239
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 237983
ClinVar RCV Id: RCV000564827 RCV000596298 RCV001084101 RCV003998811
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Ile686Val
CA10583305
NM_001318827.2:c.2056A>G