Canonical Allele Identifier: PA645432049
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 318314
ClinVar RCV Id: RCV000359958 RCV000560091 RCV004021647
ClinVar Variation Id: 1779235
ClinVar RCV Id: RCV002401434 RCV003324855
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Ser581Arg
CA033256
NM_000548.5:c.1743C>A
CA394272742
NM_000548.5:c.1741A>C
CA394272756
NM_000548.5:c.1743C>G