Canonical Allele Identifier: PA2825182252
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2178101
ClinVar RCV Id: RCV002588518 RCV004068834
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Val679Ala
CA394274557
NM_000548.5:c.2036T>C