Canonical Allele Identifier: PA2825575294
Gene: TSC2 HGNC NCBI
ClinVar RCV:
RCV000467462
ClinVar Variation:
406049
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Thr1068Pro
CA16615089
NM_001114382.3:c.3202A>C