Canonical Allele Identifier: PA2827009116
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535925
ClinVar RCV Id: RCV000644155 RCV001021583
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Arg1214Cys
CA049839
NM_001318829.2:c.3640C>T