Canonical Allele Identifier: PA2827000617
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207771
ClinVar RCV Id: RCV000190055 RCV000572337 RCV001084043 RCV003996899
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Arg224Gln
CA319570
NM_001318827.2:c.671G>A