Canonical Allele Identifier: PA2827000565
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49896
ClinVar RCV Id: RCV000043163 RCV000478154
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Cys207Arg
CA022889
NM_001318827.2:c.619T>C