Canonical Allele Identifier: PA2828095340
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 187484
ClinVar RCV Id: RCV000167217 RCV000526320 RCV002492675
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Ile1669Ser
CA022137
NM_001363528.2:c.5006T>G