Canonical Allele Identifier: PA2829978306
Gene: TSC2 HGNC NCBI
ClinVar RCV:
RCV000467462
ClinVar Variation:
406049
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Thr1025Pro
CA16615089
NM_021055.3:c.3073A>C