Canonical Allele Identifier: PA916023173
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 385045
ClinVar RCV Id: RCV000428159 RCV000468568 RCV002436294 RCV004000421
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Pro39His
CA16607134
NM_001318832.2:c.116C>A