Canonical Allele Identifier: PA2828414469
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535870
ClinVar RCV Id: RCV000644088 RCV002483857
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Arg1413Trp
CA051001
NM_001370404.1:c.4237C>T