Canonical Allele Identifier: PA2825576685
Gene: TSC2 HGNC NCBI
ClinVar RCV:
RCV000546695
ClinVar Variation:
468092
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Gln1480Arg
CA394302741
NM_001114382.3:c.4439A>G