Canonical Allele Identifier: PA2828416300
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207700
ClinVar RCV Id: RCV000189958 RCV000229518 RCV002327021 RCV003996876
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Lys144Arg
CA050850
NM_001370405.1:c.431A>G