Canonical Allele Identifier: PA2828095342
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468147
ClinVar RCV Id: RCV000550602 RCV002341373 RCV000604770 RCV003999327 RCV004538003
ClinVar Variation Id: 2806460
ClinVar RCV Id: RCV003627753
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Ile1669Val
CA054409
NM_001363528.2:c.5005A>G
CA2739269936
NM_001363528.2:c.5004_5005delinsCG