Canonical Allele Identifier: PA2827021069
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486631
ClinVar RCV Id: RCV000563385 RCV000644196
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.His1713Tyr
CA394315380
NM_001318832.2:c.5137C>T