Canonical Allele Identifier: PA2828412257
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535887
ClinVar RCV Id: RCV000644106 RCV001014943 RCV000765269 RCV001580527
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Arg751Gln
CA276740000
NM_001370404.1:c.2252G>A