Canonical Allele Identifier: PA2827019330
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468048
ClinVar RCV Id: RCV000547432 RCV002367881 RCV002483446
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Met1244Thr
CA394296835
NM_001318832.2:c.3731T>C