Canonical Allele Identifier: PA2828416954
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 64956
ClinVar RCV Id: RCV000055159 RCV001009773 RCV001079443
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Lys347Arg
CA013642
NM_001370405.1:c.1040A>G