Canonical Allele Identifier: PA2828413145
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49247
ClinVar RCV Id: RCV000042506 RCV002513616
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Thr1027Arg
CA018689
NM_001370404.1:c.3080C>G