Canonical Allele Identifier: PA916022836
Gene: TSC2 HGNC NCBI
ClinVar RCV:
RCV000467462
ClinVar Variation:
406049
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Thr988Pro
CA16615089
NM_001318827.2:c.2962A>C