Canonical Allele Identifier: PA2825439638
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 405947
ClinVar RCV Id: RCV000466239 RCV002348291
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.Pro1696Arg
CA16615206
NM_001077183.3:c.5087C>G