Canonical Allele Identifier: PA2827002240
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 237984
ClinVar RCV Id: RCV000227175 RCV002429100
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Ile686Phe
CA10583306
NM_001318827.2:c.2056A>T