Canonical Allele Identifier: PA2827000596
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468180
ClinVar RCV Id: RCV000543169 RCV002395408 RCV003999336
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Cys216Phe
CA394312795
NM_001318827.2:c.647G>T