Canonical Allele Identifier: PA2825577508
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49949
ClinVar RCV Id: RCV000043216 RCV001366989 RCV002247426
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Ser1700Pro
CA022058
NM_001114382.3:c.5098T>C