Canonical Allele Identifier: PA2827015179
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406078
ClinVar RCV Id: RCV000465567 RCV002329033 RCV004000715 RCV003128805
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Pro1157Ala
CA050641
NM_001318831.2:c.3469C>G