Canonical Allele Identifier: PA658681232
Gene: TSC2 HGNC NCBI
ClinVar RCV:
RCV000546695
ClinVar Variation:
468092
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Gln1503Arg
CA394302741
NM_000548.5:c.4508A>G