Canonical Allele Identifier: PA2827006285
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_001305758.1:p.Cys195Arg
CA022889
NM_001318829.2:c.583T>C