Canonical Allele Identifier: PA2827007329
Gene: TSC2 HGNC NCBI
ClinVar RCV:
RCV000227968
ClinVar Variation:
237972
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Ala565Pro
CA10583299
NM_001318829.2:c.1693G>C