Canonical Allele Identifier: PA658804887
Gene: TSC2 HGNC NCBI
ClinVar RCV:
RCV000644114
ClinVar Variation:
535892
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Thr147Lys
CA394308347
NM_000548.5:c.440C>A