Canonical Allele Identifier: PA2827002386
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406028
ClinVar RCV Id: RCV000464898 RCV001764381 RCV004000701 RCV002446788
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Leu727Met
CA16615073
NM_001318827.2:c.2179C>A