Canonical Allele Identifier: PA2827004573
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49490
ClinVar RCV Id: RCV000042750 RCV001852889 RCV003441731
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Pro1394Thr
CA020509
NM_001318827.2:c.4180C>A